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1. Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54.

Author

Smith, Thomas, Rea, Alessandro, Thomas, Huw, Thompson, Kyle, Oláhová, Monika, Maroofian, Reza, Zamani, Mina, He, Langping, Sadeghian, Saeid, Galehdari, Hamid, Lotan, Nava, Gilboa, Tal, McCorvie, Thomas, Yue, Wyatt, Houlden, Henry, Taylor, Robert, Newman, William, OKeefe, Raymond, and Herman, Kristin

Subjects
Female, Humans, Genotype, Hearing Loss, Sensorineural, Homozygote, Mitochondrial Diseases, RNA, Transfer, Ribonuclease P
Abstract

Biallelic hypomorphic variants in PRORP have been recently described as causing the autosomal recessive disorder combined oxidative phosphorylation deficiency type 54 (COXPD54). COXPD54 encompasses a phenotypic spectrum of sensorineural hearing loss and ovarian insufficiency (Perrault syndrome) to leukodystrophy. Here, we report three additional families with homozygous missense PRORP variants with pleiotropic phenotypes. Each missense variant altered a highly conserved residue within the metallonuclease domain. In vitro mitochondrial tRNA processing assays with recombinant TRMT10C, SDR5C1 and PRORP indicated two COXPD54-associated PRORP variants, c.1159A>G (p.Thr387Ala) and c.1241C>T (p.Ala414Val), decreased pre-tRNAIle cleavage, consistent with both variants impacting tRNA processing. No significant decrease in tRNA processing was observed with PRORP c.1093T>C (p.Tyr365His), which was identified in an individual with leukodystrophy. These data provide independent evidence that PRORP variants are associated with COXPD54 and that the assessment of 5 leader mitochondrial tRNA processing is a valuable assay for the functional analysis and clinical interpretation of novel PRORP variants.

Published
2023

2. BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

Author

Engel, Camille, Valence, Stéphanie, Delplancq, Geoffroy, Maroofian, Reza, Accogli, Andrea, Agolini, Emanuele, Alkuraya, Fowzan, Baglioni, Valentina, Bagnasco, Irene, Becmeur-Lefebvre, Mathilde, Bertini, Enrico, Borggraefe, Ingo, Brischoux-Boucher, Elise, Bruel, Ange-Line, Brusco, Alfredo, Bubshait, Dalal, Cabrol, Christelle, Cilio, Maria, Cornet, Marie-Coralie, Coubes, Christine, Danhaive, Olivier, Delague, Valérie, Denommé-Pichon, Anne-Sophie, Di Giacomo, Marilena, Doco-Fenzy, Martine, Engels, Hartmut, Cremer, Kirsten, Gérard, Marion, Gleeson, Joseph, Heron, Delphine, Goffeney, Joanna, Guimier, Anne, Harms, Frederike, Houlden, Henry, Iacomino, Michele, Kaiyrzhanov, Rauan, Kamien, Benjamin, Karimiani, Ehsan, Kraus, Dror, Kuentz, Paul, Kutsche, Kerstin, Lederer, Damien, Massingham, Lauren, Mignot, Cyril, Morris-Rosendahl, Déborah, Nagarajan, Lakshmi, Odent, Sylvie, Ormières, Clothilde, Partlow, Jennifer, Pasquier, Laurent, Penney, Lynette, Philippe, Christophe, Piccolo, Gianluca, Poulton, Cathryn, Putoux, Audrey, Rio, Marlène, Rougeot, Christelle, Salpietro, Vincenzo, Scheffer, Ingrid, Schneider, Amy, Srivastava, Siddharth, Straussberg, Rachel, Striano, Pasquale, Valente, Enza, Venot, Perrine, Villard, Laurent, Vitobello, Antonio, Wagner, Johanna, Wagner, Matias, Zaki, Maha, Zara, Federizo, Lesca, Gaetan, Yassaee, Vahid, Miryounesi, Mohammad, Hashemi-Gorji, Farzad, Beiraghi, Mehran, Ashrafzadeh, Farah, Galehdari, Hamid, Walsh, Christopher, Novelli, Antonio, Tacke, Moritz, Sadykova, Dinara, Maidyrov, Yerdan, Koneev, Kairgali, Shashkin, Chingiz, Capra, Valeria, Zamani, Mina, Van Maldergem, Lionel, Burglen, Lydie, and Piard, Juliette

Subjects
Humans, Nuclear Proteins, Epilepsy, Phenotype, Genotype, Genetic Association Studies, Neurodegenerative Diseases, Atrophy
Abstract

BRAT1 biallelic variants are associated with rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL), and neurodevelopmental disorder associating cerebellar atrophy with or without seizures syndrome (NEDCAS). To date, forty individuals have been reported in the literature. We collected clinical and molecular data from 57 additional cases allowing us to study a large cohort of 97 individuals and draw phenotype-genotype correlations. Fifty-nine individuals presented with BRAT1-related RMFSL phenotype. Most of them had no psychomotor acquisition (100%), epilepsy (100%), microcephaly (91%), limb rigidity (93%), and died prematurely (93%). Thirty-eight individuals presented a non-lethal phenotype of BRAT1-related NEDCAS phenotype. Seventy-six percent of the patients in this group were able to walk and 68% were able to say at least a few words. Most of them had cerebellar ataxia (82%), axial hypotonia (79%) and cerebellar atrophy (100%). Genotype-phenotype correlations in our cohort revealed that biallelic nonsense, frameshift or inframe deletion/insertion variants result in the severe BRAT1-related RMFSL phenotype (46/46; 100%). In contrast, genotypes with at least one missense were more likely associated with NEDCAS (28/34; 82%). The phenotype of patients carrying splice variants was variable: 41% presented with RMFSL (7/17) and 59% with NEDCAS (10/17).

Published
2023

8. Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder

Author

Maroofian, Reza, Zamani, Mina, Kaiyrzhanov, Rauan, Liebmann, Lutz, Karimiani, Ehsan Ghayoor, Vona, Barbara, Huebner, Antje K., Calame, Daniel G., Misra, Vinod K., Sadeghian, Saeid, Azizimalamiri, Reza, Mohammadi, Mohammad Hasan, Zeighami, Jawaher, Heydaran, Sogand, Toosi, Mehran Beiraghi, Akhondian, Javad, Babaei, Meisam, Hashemi, Narges, Schnur, Rhonda E., Suri, Mohnish, Setzke, Jonas, Wagner, Matias, Brunet, Theresa, Grochowski, Christopher M., Emrick, Lisa, Chung, Wendy K., Hellmich, Ute A., Schmidts, Miriam, Lupski, James R., Galehdari, Hamid, Severino, Mariasavina, Houlden, Henry, and Hübner, Christian A.

Published
2024
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10. Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

Author

Hengel, Holger, Hannan, Shabab B, Dyack, Sarah, MacKay, Sara B, Schatz, Ulrich, Fleger, Martin, Kurringer, Andreas, Balousha, Ghassan, Ghanim, Zaid, Alkuraya, Fowzan S, Alzaidan, Hamad, Alsaif, Hessa S, Mitani, Tadahiro, Bozdogan, Sevcan, Pehlivan, Davut, Lupski, James R, Gleeson, Joseph J, Dehghani, Mohammadreza, Mehrjardi, Mohammad YV, Sherr, Elliott H, Parks, Kendall C, Argilli, Emanuela, Begtrup, Amber, Galehdari, Hamid, Balousha, Osama, Shariati, Gholamreza, Mazaheri, Neda, Malamiri, Reza A, Pagnamenta, Alistair T, Kingston, Helen, Banka, Siddharth, Jackson, Adam, Osmond, Mathew, Consortium, Care4Rare Canada, Consortium, Genomics England Research, Rieß, Angelika, Haack, Tobias B, Nägele, Thomas, Schuster, Stefanie, Hauser, Stefan, Admard, Jakob, Casadei, Nicolas, Velic, Ana, Macek, Boris, Ossowski, Stephan, Houlden, Henry, Maroofian, Reza, and Schöls, Ludger

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Human Genome, Brain Disorders, Congenital Structural Anomalies, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Animals, Cell Movement, Child, Child, Preschool, Drosophila, Female, Fibroblasts, Humans, Infant, Loss of Function Mutation, Loss of Heterozygosity, Male, Mice, Mice, Knockout, Neoplasm Proteins, Neurodevelopmental Disorders, Pedigree, Proteome, Young Adult, Care4Rare Canada Consortium, Genomics England Research Consortium, BCAS3, UAS-Gal4, fibroblasts, global developmental delay, microcephaly, neurodevelopmental disorder, proteomics, pyramidal tract involvement, thin corpus callosum, transcriptomics, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

BCAS3 microtubule-associated cell migration factor (BCAS3) is a large, highly conserved cytoskeletal protein previously proposed to be critical in angiogenesis and implicated in human embryogenesis and tumorigenesis. Here, we established BCAS3 loss-of-function variants as causative for a neurodevelopmental disorder. We report 15 individuals from eight unrelated families with germline bi-allelic loss-of-function variants in BCAS3. All probands share a global developmental delay accompanied by pyramidal tract involvement, microcephaly, short stature, strabismus, dysmorphic facial features, and seizures. The human phenotype is less severe compared with the Bcas3 knockout mouse model and cannot be explained by angiogenic defects alone. Consistent with being loss-of-function alleles, we observed absence of BCAS3 in probands' primary fibroblasts. By comparing the transcriptomic and proteomic data based on probands' fibroblasts with those of the knockout mouse model, we identified similar dysregulated pathways resulting from over-representation analysis, while the dysregulation of some proposed key interactors could not be confirmed. Together with the results from a tissue-specific Drosophila loss-of-function model, we demonstrate a vital role for BCAS3 in neural tissue development.

Published
2021

11. A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

Author

Ghosh, Shereen G, Scala, Marcello, Beetz, Christian, Helman, Guy, Stanley, Valentina, Yang, Xiaoxu, Breuss, Martin W, Mazaheri, Neda, Selim, Laila, Hadipour, Fatemeh, Pais, Lynn, Stutterd, Chloe A, Karageorgou, Vasiliki, Begtrup, Amber, Crunk, Amy, Juusola, Jane, Willaert, Rebecca, Flore, Leigh A, Kennelly, Kelly, Spencer, Christopher, Brown, Martha, Trapane, Pamela, Hurst, Anna CE, Lane Rutledge, S, Goodloe, Dana H, McDonald, Marie T, Shashi, Vandana, Schoch, Kelly, Tomoum, Hoda, Zaitoun, Raghda, Hadipour, Zahra, Galehdari, Hamid, Pagnamenta, Alistair T, Mojarrad, Majid, Sedaghat, Alireza, Dias, Patrícia, Quintas, Sofia, Eslahi, Atiyeh, Shariati, Gholamreza, Bauer, Peter, Simons, Cas, Houlden, Henry, Issa, Mahmoud Y, Zaki, Maha S, Maroofian, Reza, and Gleeson, Joseph G

Subjects
Biological Sciences, Genetics, Brain Disorders, Rare Diseases, Clinical Research, Neurosciences, Human Genome, Pediatric, Neurodegenerative, Intellectual and Developmental Disabilities (IDD), 2.1 Biological and endogenous factors, Aetiology, Child, Child, Preschool, Codon, Nonsense, Exome, Exons, Female, Homozygote, Humans, Male, Microcephaly, Nerve Tissue Proteins, Neurodevelopmental Disorders, Pedigree, RNA Splice Sites, RNA Splicing, Syndrome, Vesicular Transport Proteins, Undiagnosed Diseases Network, Clinical Sciences, Genetics & Heredity, Clinical sciences
Abstract

Trafficking protein particle (TRAPP) complexes, which include the TRAPPC4 protein, regulate membrane trafficking between lipid organelles in a process termed vesicular tethering. TRAPPC4 was recently implicated in a recessive neurodevelopmental condition in four unrelated families due to a shared c.454+3A>G splice variant. Here, we report 23 patients from 17 independent families with an early-infantile-onset neurodegenerative presentation, where we also identified the homozygous variant hg38:11:119020256 A>G (NM_016146.5:c.454+3A>G) in TRAPPC4 through exome or genome sequencing. No other clinically relevant TRAPPC4 variants were identified among any of over 10,000 patients with neurodevelopmental conditions. We found the carrier frequency of TRAPPC4 c.454+3A>G was 2.4-5.4 per 10,000 healthy individuals. Affected individuals with the homozygous TRAPPC4 c.454+3A>G variant showed profound psychomotor delay, developmental regression, early-onset epilepsy, microcephaly and progressive spastic tetraplegia. Based upon RNA sequencing, the variant resulted in partial exon 3 skipping and generation of an aberrant transcript owing to use of a downstream cryptic splice donor site, predicting a premature stop codon and nonsense mediated decay. These data confirm the pathogenicity of the TRAPPC4 c.454+3A>G variant, and refine the clinical presentation of TRAPPC4-related encephalopathy.

Published
2021

13. Biallelic mutations in SUPV3L1 cause an inherited neurodevelopmental disorder with variable leukodystrophy due to aberrant mitochondrial double stranded RNA processing

Author

Green, Lydia, primary, Hamilton, Noémie, additional, Elpidorou, Marilena, additional, Maroofian, Reza, additional, Douglas, Andrew G.L., additional, Õunap, Katrin, additional, Rose, Ailsa M.S., additional, Harris, Erica L., additional, Elworthy, Stone, additional, Renshaw, Stephen A., additional, Low, Elizabeth C., additional, Dockrell, David H., additional, Tveten, Kristian, additional, Wells, Geoffrey, additional, Harris, Sarah A., additional, Al-Maawali, Almundher, additional, Al-Thihli, Khalid, additional, Al-Zuhaibi, Sana, additional, Futaisi, Amna Al, additional, Calame, Daniel, additional, Chinn, Ivan, additional, Fisher, Kristen S., additional, Sa, Mario, additional, Warren, Daniel, additional, Zamani, Mina, additional, Sadeghian, Saeid, additional, Azizimalamiri, Reza, additional, Galehdari, Hamid, additional, Shariati, Gholamreza, additional, Seifi, Tahere, additional, Zaki, Maha S., additional, Afzal, Erum, additional, Tarnopolsky, Mark A., additional, Brady, Lauren, additional, Zuchner, Stephan L., additional, Efthymiou, Stephanie, additional, Scardamaglia, Annarita, additional, Houlden, Henry, additional, Wakeling, Emma, additional, Prabhakar, Prab, additional, Roca-Bayerri, Carla, additional, Rice, Gillian I., additional, Prouteau, Clément, additional, Bris, Céline, additional, Tessarech, Marine, additional, Sandvig, Inger, additional, Sheridan, Eamonn G., additional, Johnson, Colin A., additional, Livingston, John H., additional, Crow, Yanick J., additional, and Poulter, James A., additional

Published
2024
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19. Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

Author

Lin, Sheng-Jia, Vona, Barbara, Barbalho, Patricia G., Kaiyrzhanov, Rauan, Maroofian, Reza, Petree, Cassidy, Severino, Mariasavina, Stanley, Valentina, Varshney, Pratishtha, Bahena, Paulina, Alzahrani, Fatema, Alhashem, Amal, Pagnamenta, Alistair T., Aubertin, Gudrun, Estrada-Veras, Juvianee I., Hernández, Héctor Adrián Díaz, Mazaheri, Neda, Oza, Andrea, Thies, Jenny, Renaud, Deborah L., Dugad, Sanmati, McEvoy, Jennifer, Sultan, Tipu, Pais, Lynn S., Tabarki, Brahim, Villalobos-Ramirez, Daniel, Rad, Aboulfazl, Ambrose, J.C., Arumugam, P., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Caulfield, M.J., Chan, G.C., Fowler, T., Giess, A., Hamblin, A., Henderson, S., Hubbard, T.J.P., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O‘Donovan, P., Odhams, C.A., Patch, C., Perez-Gil, D., Pereira, M.B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Thomas, E.R.A., Thompson, S.R., Tucci, A., Walsh, E., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Galehdari, Hamid, Ashrafzadeh, Farah, Sahebzamani, Afsaneh, Saeidi, Kolsoum, Torti, Erin, Elloumi, Houda Z., Mora, Sara, Palculict, Timothy B., Yang, Hui, Wren, Jonathan D., Ben Fowler, Joshi, Manali, Behra, Martine, Burgess, Shawn M., Nath, Swapan K., Hanna, Michael G., Kenna, Margaret, Merritt, J. Lawrence, II, Houlden, Henry, Karimiani, Ehsan Ghayoor, Zaki, Maha S., Haaf, Thomas, Alkuraya, Fowzan S., Gleeson, Joseph G., and Varshney, Gaurav K.

Published
2021
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21. A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

Author

Vona, Barbara, Mazaheri, Neda, Lin, Sheng-Jia, Dunbar, Lucy A., Maroofian, Reza, Azaiez, Hela, Booth, Kevin T., Vitry, Sandrine, Rad, Aboulfazl, Rüschendorf, Franz, Varshney, Pratishtha, Fowler, Ben, Beetz, Christian, Alagramam, Kumar N., Murphy, David, Shariati, Gholamreza, Sedaghat, Alireza, Houlden, Henry, Petree, Cassidy, VijayKumar, Shruthi, Smith, Richard J. H., Haaf, Thomas, El-Amraoui, Aziz, Bowl, Michael R., Varshney, Gaurav K., and Galehdari, Hamid

Published
2021
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24. Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)

Author

Vera, Gabriella, Sorlin, Arthur, Delplancq, Geoffroy, Lecoquierre, François, Brasseur-Daudruy, Marie, Petit, Florence, Smol, Thomas, Ziegler, Alban, Bonneau, Dominique, Colin, Estelle, Mercier, Sandra, Cogné, Benjamin, Bézieau, Stéphane, Edery, Patrick, Lesca, Gaetan, Chatron, Nicolas, Sabatier, Isabelle, Duban-Bedu, Bénédicte, Colson, Cindy, Piton, Amélie, Durand, Benjamin, Capri, Yline, Perrin, Laurence, Wiesener, Antje, Zweier, Christiane, Maroofian, Reza, Carroll, Christopher J., Galehdari, Hamid, Mazaheri, Neda, Callewaert, Bert, Giulianno, Fabienne, Zaafrane-Khachnaoui, Khaoula, Buchert-Lo, Rebecca, Haack, Tobias, Magg, Janine, Rieß, Angelika, Blandfort, Maria, Waldmüller, Stephan, Horber, Veronka, Leonardi, Emanuela, Polli, Roberta, Turolla, Licia, Murgia, Alessandra, Frebourg, Thierry, Lebre, Anne Sophie, Nicolas, Gaël, Saugier-Veber, Pascale, and Guerrot, Anne-Marie

Published
2020
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25. Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.

Author

Pace, Raffaella De, Maroofian, Reza, Paimboeuf, Adeline, Zamani, Mina, Zaki, Maha S, Sadeghian, Saeid, Azizimalamiri, Reza, Galehdari, Hamid, Zeighami, Jawaher, Williamson, Chad D, Fleming, Emily, Zhou, Dihong, Gannon, Jennifer L, Thiffault, Isabelle, Roze, Emmanuel, Suri, Mohnish, Zifarelli, Giovanni, Bauer, Peter, Houlden, Henry, and Severino, Mariasavina

Subjects
NEURODEGENERATION, SPASTICITY, GENETIC variation, CENTRAL nervous system, SIZE of brain, FAMILIAL spastic paraplegia
Abstract

BLOC-one-related complex (BORC) is a multiprotein complex composed of eight subunits named BORCS1–8. BORC associates with the cytosolic face of lysosomes, where it sequentially recruits the small GTPase ARL8 and kinesin-1 and -3 microtubule motors to promote anterograde transport of lysosomes toward the peripheral cytoplasm in non-neuronal cells and the distal axon in neurons. The physiological and pathological importance of BORC in humans, however, remains to be determined. Here, we report the identification of compound heterozygous variants [missense c.85T>C (p.Ser29Pro) and frameshift c.71-75dupTGGCC (p.Asn26Trpfs*51)] and homozygous variants [missense c.196A>C (p.Thr66Pro) and c.124T>C (p.Ser42Pro)] in BORCS8 in five children with a severe early-infantile neurodegenerative disorder from three unrelated families. The children exhibit global developmental delay, severe-to-profound intellectual disability, hypotonia, limb spasticity, muscle wasting, dysmorphic facies, optic atrophy, leuko-axonopathy with hypomyelination, and neurodegenerative features with prevalent supratentorial involvement. Cellular studies using a heterologous transfection system show that the BORCS8 missense variants p.Ser29Pro, p.Ser42Pro and p.Thr66Pro are expressed at normal levels but exhibit reduced assembly with other BORC subunits and reduced ability to drive lysosome distribution toward the cell periphery. The BORCS8 frameshift variant p.Asn26Trpfs*51, on the other hand, is expressed at lower levels and is completely incapable of assembling with other BORC subunits and promoting lysosome distribution toward the cell periphery. Therefore, all the BORCS8 variants are partial or total loss-of-function alleles and are thus likely pathogenic. Knockout of the orthologous borcs8 in zebrafish causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human disease. These findings thus identify BORCS8 as a novel genetic locus for an early-infantile neurodegenerative disorder and highlight the critical importance of BORC and lysosome dynamics for the development and function of the central nervous system. [ABSTRACT FROM AUTHOR]

Published
2024
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27. Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics

Author

De Pace, Raffaella, primary, Maroofian, Reza, additional, Paimboeuf, Adeline, additional, Zamani, Mina, additional, Zaki, Maha S, additional, Sadeghian, Saeid, additional, Azizimalamiri, Reza, additional, Galehdari, Hamid, additional, Zeighami, Jawaher, additional, Williamson, Chad D, additional, Fleming, Emily, additional, Zhou, Dihong, additional, Gannon, Jennifer L, additional, Thiffault, Isabelle, additional, Roze, Emmanuel, additional, Suri, Mohnish, additional, Zifarelli, Giovanni, additional, Bauer, Peter, additional, Houlden, Henry, additional, Severino, Mariasavina, additional, Patten, Shunmoogum A, additional, Farrow, Emily, additional, and Bonifacino, Juan S, additional

Published
2023
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31. PKHD1L1, A Gene Involved in the Stereociliary Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss

Author

Redfield, Shelby E., primary, De-la-Torre, Pedro, additional, Zamani, Mina, additional, Khan, Hina, additional, Morris, Tyler, additional, Shariati, Gholamreza, additional, Karimi, Majid, additional, Kenna, Margaret A., additional, Seo, Go Hun, additional, Naz, Sadaf, additional, Galehdari, Hamid, additional, Indzhykulian, Artur A., additional, Shearer, A. Eliot, additional, and Vona, Barbara, additional

Published
2023
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35. Identification of new variants in patients with mucopolysaccharidosis in consanguineous Iranian families.

Author

Zabihi, Rezvan, Zamani, Mina, Aminzadeh, Majid, Chamanrou, Niloofar, Kiani, Fatemeh Zahra, Seifi, Tahere, Zeighami, Jawaher, Yadegari, Tahere, Sedaghat, Alireza, Saberi, Alihossein, Hamid, Mohammad, Shariati, Gholamreza, and Galehdari, Hamid

Subjects
IRANIANS, MUCOPOLYSACCHARIDOSIS, MEDICAL screening, CONSANGUINITY, LYSOSOMAL storage diseases, BIOINFORMATICS software, IDENTIFICATION
Abstract

Introduction: Mucopolysaccharidoses are a group of lysosomal storage disorders that include seven types that are classified based on the enzymes that are disrupted. Malfunction of these enzymes leads to the accumulation of glycosaminoglycans (GAGs) in various tissues. Due to genetic and clinical heterogeneity, diagnosing and distinguishing the different types is challenging. Genetic methods such as whole exome sequencing (WES) and Sanger sequencing are accurate methods for detecting pathogenic variants in patients. Methods: Thirty-two cases of mucopolysaccharidosis, predominantly from families with consanguineous marriages, were genetically examined. Out of these, fourteen cases underwent targeted sequencing, while the rest underwent WES. The results of WES were analyzed and the pathogenicity of the variants was examined using bioinformatics tools. In addition, a segregation analysis within families was carried out. Results: In most cases, a pathogenic or likely pathogenic variant was detected. Sixteen previously reported variants and six new variants were detected in the known IDS (c.458G>C, c.701del, c.920T>G), GNS (c.1430A>T), GALNS (c.1218_ 1221dup), and SGSH (c.149T>C) genes. Furthermore, we discovered a c.259G>C substitution in the NAGLU gene for the first time in three homozygous patients. This substitution was previously reported as heterozygous. Except for the variants related to the IDS gene, which were hemizygous, all the other variants were homozygous. Discussion: It appears that the high rate of consanguineous marriages in the families being studied has had a significant impact on the occurrence of this disease. Overall, these findings could expand the spectrum of pathogenic variants in mucopolysaccharidoses. Genetic methods, especially WES, are very accurate and can be used alone or in conjunction with other diagnostic methods for a more precise and rapid diagnosis of mucopolysaccharidoses. Additionally, they could be beneficial for family screening and disease prevention. [ABSTRACT FROM AUTHOR]

Published
2024
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36. Genotypic variants of the tetrahydrobiopterin (BH4) biosynthesis genes in patients with hyperphenylalaninemia from different regions of Iran.

Author

Nezhad, Seyed Reza Kazemi, Aligoodarzi, Pegah Namdar, Rostami, Golale, Shariati, Gholamreza, Galehdari, Hamid, Saberi, Alihossein, Sedaghat, Alireza, and Hamid, Mohammad

Subjects
TETRAHYDROBIOPTERIN, PATIENTS' families, GENOTYPES, BIOSYNTHESIS, GENETIC counseling, BONE morphogenetic protein receptors
Abstract

Background: Hyperphenylalaninemia (HPA) is a metabolic disorder classified into phenylalanine‐4‐hydroxylase (PAH) and non‐PAH deficiency. The latter is produced by mutations in genes involved in the tetrahydrobiopterin (BH4) biosynthesis pathway and DNAJC12 pathogenetic variants. The BH4 metabolism, including de novo biosynthesis involved genes (i.e., guanosine 5′‐triphosphate cyclohydrolase I (GTPCH/GCH1), sepiapterin reductase (SR/SPR), 6‐pyruvoyl‐tetrahydropterin synthase (PTPS/PTS)), and two genes that play roles in cofactor regeneration pathway (i.e., dihydropteridine reductase (DHPR/QDPR) and pterin‐4α‐carbinolamine dehydratase (PCD/PCBD1)). The subsequent systemic hyperphenylalaninemia and monoamine neurotransmitter deficiency lead to neurological consequences. The high rate of consanguineous marriages in Iran substantially increases the incidence of BH4 deficiency. Methods: We utilized the Sanger sequencing technique in this study to investigate 14 Iranian patients with non‐PAH deficiency. All affected subjects in this study had HPA and no mutation was detected in their PAH gene. Results: We successfully identified six mutant alleles in BH4‐deficiency‐associated genes, including three novel mutations: one in QDPR, one in PTS, and one in the PCBD1 gene, thus giving a definite diagnosis to these patients. Conclusion: In this light, appropriate patient management may follow. The clinical effect of reported variants is essential for genetic counseling and prenatal diagnosis in the patients' families and significant for the improvement of precision medicine. [ABSTRACT FROM AUTHOR]

Published
2024
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37. TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

Author

Almousa, Hashem, primary, Lewis, Sara A, additional, Bakhtiari, Somayeh, additional, Nordlie, Sandra Hinz, additional, Pagnozzi, Alex, additional, Magee, Helen, additional, Efthymiou, Stephanie, additional, Heim, Jennifer A, additional, Cornejo, Patricia, additional, Zaki, Maha S, additional, Anwar, Najwa, additional, Maqbool, Shazia, additional, Rahman, Fatima, additional, Neilson, Derek E, additional, Vemuri, Anusha, additional, Jin, Sheng Chih, additional, Yang, Xiao-Ru, additional, Heidari, Abolfazl, additional, van Gassen, Koen, additional, Trimouille, Aurélien, additional, Thauvin-Robinet, Christel, additional, Liu, James, additional, Bruel, Ange-Line, additional, Tomoum, Hoda, additional, Shata, Mennatallah O, additional, Hashem, Mais O, additional, Toosi, Mehran Beiraghi, additional, Ghayoor Karimiani, Ehsan, additional, Yeşil, Gözde, additional, Lingappa, Lokesh, additional, Baruah, Debangana, additional, Ebrahimzadeh, Farnoosh, additional, Van-Gils, Julien, additional, Faivre, Laurence, additional, Zamani, Mina, additional, Galehdari, Hamid, additional, Sadeghian, Saeid, additional, Shariati, Gholamreza, additional, Mohammad, Rahema, additional, van der Smagt, Jasper, additional, Qari, Alya, additional, Vincent, John B, additional, Innes, A Micheil, additional, Dursun, Ali, additional, Özgül, R Köksal, additional, Akar, Halil Tuna, additional, Bilguvar, Kaya, additional, Mignot, Cyril, additional, Keren, Boris, additional, Raveli, Claudia, additional, Burglen, Lydie, additional, Afenjar, Alexandra, additional, Donker Kaat, Laura, additional, van Slegtenhorst, Marjon, additional, Alkuraya, Fowzan, additional, Houlden, Henry, additional, Padilla-Lopez, Sergio, additional, Maroofian, Reza, additional, Sacher, Michael, additional, and Kruer, Michael C, additional

Published
2023
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38. Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

Author

Maroofian, Reza, primary, Kaiyrzhanov, Rauan, additional, Cali, Elisa, additional, Zamani, Mina, additional, Zaki, Maha S, additional, Ferla, Matteo, additional, Tortora, Domenico, additional, Sadeghian, Saeid, additional, Saadi, Saadia Maryam, additional, Abdullah, Uzma, additional, Karimiani, Ehsan Ghayoor, additional, Efthymiou, Stephanie, additional, Yeşil, Gözde, additional, Alavi, Shahryar, additional, Al Shamsi, Aisha M, additional, Tajsharghi, Homa, additional, Abdel-Hamid, Mohamed S, additional, Saadi, Nebal Waill, additional, Al Mutairi, Fuad, additional, Alabdi, Lama, additional, Beetz, Christian, additional, Ali, Zafar, additional, Toosi, Mehran Beiraghi, additional, Rudnik-Schöneborn, Sabine, additional, Babaei, Meisam, additional, Isohanni, Pirjo, additional, Muhammad, Jameel, additional, Khan, Sheraz, additional, Al Shalan, Maha, additional, Hickey, Scott E, additional, Marom, Daphna, additional, Elhanan, Emil, additional, Kurian, Manju A, additional, Marafi, Dana, additional, Saberi, Alihossein, additional, Hamid, Mohammad, additional, Spaull, Robert, additional, Meng, Linyan, additional, Lalani, Seema, additional, Maqbool, Shazia, additional, Rahman, Fatima, additional, Seeger, Jürgen, additional, Palculict, Timothy Blake, additional, Lau, Tracy, additional, Murphy, David, additional, Mencacci, Niccolo Emanuele, additional, Steindl, Katharina, additional, Begemann, Anais, additional, Rauch, Anita, additional, Akbas, Sinan, additional, Aslanger, Ayça Dilruba, additional, Salpietro, Vincenzo, additional, Yousaf, Hammad, additional, Ben-Shachar, Shay, additional, Ejeskär, Katarina, additional, Al Aqeel, Aida I, additional, High, Frances A, additional, Armstrong-Javors, Amy E, additional, Zahraei, Seyed Mohammadsaleh, additional, Seifi, Tahereh, additional, Zeighami, Jawaher, additional, Shariati, Gholamreza, additional, Sedaghat, Alireza, additional, Asl, Samaneh Noroozi, additional, Shahrooei, Mohmmad, additional, Zifarelli, Giovanni, additional, Burglen, Lydie, additional, Ravelli, Claudia, additional, Zschocke, Johannes, additional, Schatz, Ulrich A, additional, Ghavideldarestani, Maryam, additional, Kamel, Walaa A, additional, Van Esch, Hilde, additional, Hackenberg, Annette, additional, Taylor, Jenny C, additional, Al-Gazali, Lihadh, additional, Bauer, Peter, additional, Gleeson, Joseph J, additional, Alkuraya, Fowzan Sami, additional, Lupski, James R, additional, Galehdari, Hamid, additional, Azizimalamiri, Reza, additional, Chung, Wendy K, additional, Baig, Shahid Mahmood, additional, Houlden, Henry, additional, and Severino, Mariasavina, additional

Published
2023
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43. NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

Author

Martin, Paige B., Kigoshi-Tansho, Yu, Sher, Roger B., Ravenscroft, Gianina, Stauffer, Jennifer E., Kumar, Rajesh, Yonashiro, Ryo, Müller, Tina, Griffith, Christopher, Allen, William, Pehlivan, Davut, Harel, Tamar, Zenker, Martin, Howting, Denise, Schanze, Denny, Faqeih, Eissa A., Almontashiri, Naif A. M., Maroofian, Reza, Houlden, Henry, Mazaheri, Neda, Galehdari, Hamid, Douglas, Ganka, Posey, Jennifer E., Ryan, Monique, Lupski, James R., Laing, Nigel G., Joazeiro, Claudio A. P., and Cox, Gregory A.

Published
2020
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44. Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

Author

Martin, Paige B., Kigoshi-Tansho, Yu, Sher, Roger B., Ravenscroft, Gianina, Stauffer, Jennifer E., Kumar, Rajesh, Yonashiro, Ryo, Müller, Tina, Griffith, Christopher, Allen, William, Pehlivan, Davut, Harel, Tamar, Zenker, Martin, Howting, Denise, Schanze, Denny, Faqeih, Eissa A., Almontashiri, Naif A. M., Maroofian, Reza, Houlden, Henry, Mazaheri, Neda, Galehdari, Hamid, Douglas, Ganka, Posey, Jennifer E., Ryan, Monique, Lupski, James R., Laing, Nigel G., Joazeiro, Claudio A. P., and Cox, Gregory A.

Published
2020
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48. Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54

Author

Newman, William, primary, Smith, Thomas, additional, Rea, Alessandro, additional, Thomas, Huw, additional, Thompson, Kyle, additional, Oláhová, Monika, additional, Maroofian, Reza, additional, Zamani, Mina, additional, He, Langping, additional, Sadeghian, Saeid, additional, Galehdari, Hamid, additional, Shaul-Lotan, Nava, additional, Gilboa, Tal, additional, Herman, Kristin, additional, McCorvie, Thomas, additional, Yue, Wyatt, additional, Houlden, Henry, additional, Taylor, Robert, additional, and RT, O'Keefe, additional

Published
2023
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