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1. DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations

Author

Lavillaureix, Alinoë, Rollier, Paul, Kim, Artem, Panasenkava, Veranika, De Tayrac, Marie, Carré, Wilfrid, Guyodo, Hélène, Faoucher, Marie, Poirel, Elisabeth, Akloul, Linda, Quélin, Chloé, Whalen, Sandra, Bos, Jessica, Broekema, Marjoleine, van Hagen, Johanna M., Grand, Katheryn, Allen-Sharpley, Michelle, Magness, Emily, McLean, Scott D., Kayserili, Hülya, Altunoglu, Umut, En Qi Chong, Angie, Xue, Shifeng, Jeanne, Médéric, Almontashiri, Naif, Habhab, Wisam, Vanlerberghe, Clemence, Faivre, Laurence, Viora-Dupont, Eléonore, Philippe, Christophe, Safraou, Hana, Laffargue, Fanny, Mittendorf, Luisa, Abou Jamra, Rami, Patil, Siddaramappa Jagdish, Dalal, Ashwin, Sarma, Asodu Sandeep, Keren, Boris, Reversade, Bruno, Dubourg, Christèle, Odent, Sylvie, and Dupé, Valérie

Published
2024
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3. Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity

Author

Maroofian, Reza, primary, Sarraf, Payam, additional, O’Brien, Thomas J, additional, Kamel, Mona, additional, Cakar, Arman, additional, Elkhateeb, Nour, additional, Lau, Tracy, additional, Patil, Siddaramappa Jagdish, additional, Record, Christopher J, additional, Horga, Alejandro, additional, Essid, Miriam, additional, Selim, Laila, additional, Benrhouma, Hanene, additional, Ben Younes, Thouraya, additional, Zifarelli, Giovanni, additional, Pagnamenta, Alistair T, additional, Bauer, Peter, additional, Khundadze, Mukhran, additional, Mirecki, Andrea, additional, Kamel, Sara Mahmoud, additional, Elmonem, Mohamed A, additional, Ghayoor Karimiani, Ehsan, additional, Jamshidi, Yalda, additional, Offiah, Amaka C, additional, Rossor, Alexander M, additional, Youssef-Turki, Ilhem Ben, additional, Hübner, Christian A, additional, Munot, Pinki, additional, Reilly, Mary M, additional, Brown, André E X, additional, Nagy, Sara, additional, and Houlden, Henry, additional

Published
2024
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4. RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.

Author

Maroofian, Reza, Sarraf, Payam, O'Brien, Thomas J, Kamel, Mona, Cakar, Arman, Elkhateeb, Nour, Lau, Tracy, Patil, Siddaramappa Jagdish, Record, Christopher J, Horga, Alejandro, Essid, Miriam, Selim, Laila, Benrhouma, Hanene, Younes, Thouraya Ben, Zifarelli, Giovanni, Pagnamenta, Alistair T, Bauer, Peter, Khundadze, Mukhran, Mirecki, Andrea, and Kamel, Sara Mahmoud

Subjects
MOTOR neuron diseases, NERVE conduction studies, SPASTICITY, SPASTIC paralysis, FAMILIAL spastic paraplegia, DISEASE duration, SARCOPLASMIC reticulum
Abstract

Heterozygous RTN2 variants have been previously identified in a limited cohort of families affected by autosomal dominant spastic paraplegia (SPG12-OMIM:604805) with a variable age of onset. Nevertheless, the definitive validity of SPG12 remains to be confidently confirmed due to the scarcity of supporting evidence. In this study, we identified and validated seven novel or ultra-rare homozygous loss-of-function RTN2 variants in 14 individuals from seven consanguineous families with distal hereditary motor neuropathy (dHMN) using exome, genome and Sanger sequencing coupled with deep-phenotyping. All affected individuals (seven males and seven females, aged 9–50 years) exhibited weakness in the distal upper and lower limbs, lower limb spasticity and hyperreflexia, with onset in the first decade of life. Nerve conduction studies revealed axonal motor neuropathy with neurogenic changes in the electromyography. Despite a slowly progressive disease course, all patients remained ambulatory over a mean disease duration of 19.71 ± 13.70 years. Characterization of Caenorhabditis elegans RTN2 homologous loss-of-function variants demonstrated morphological and behavioural differences compared with the parental strain. Treatment of the mutant with an endoplasmic/sarcoplasmic reticulum Ca2+ reuptake inhibitor (2,5-di-tert-butylhydroquinone) rescued key phenotypic differences, suggesting a potential therapeutic benefit for RTN2-disorder. Despite RTN2 being an endoplasmic reticulum (ER)-resident membrane shaping protein, our analysis of patient fibroblast cells did not find significant alterations in ER structure or the response to ER stress. Our findings delineate a distinct form of autosomal recessive dHMN with pyramidal features associated with RTN2 deficiency. This phenotype shares similarities with SIGMAR1-related dHMN and Silver-like syndromes, providing valuable insights into the clinical spectrum and potential therapeutic strategies for RTN2-related dHMN. [ABSTRACT FROM AUTHOR]

Published
2024
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6. Down syndrome in diverse populations

Author

Kruszka, Paul, Porras, Antonio R., Sobering, Andrew K., Ikolo, Felicia A., La Qua, Samantha, Shotelersuk, Vorasuk, Chung, Brian H. Y., Mok, Gary T. K., Uwineza, Annette, Mutesa, Leon, Moresco, Angélica, Obregon, María Gabriela, Sokunbi, Ogochukwu Jidechukwu, Kalu, Nnenna, Joseph, Daniel Akinsanya, Ikebudu, Desmond, Ugwu, Christopher Emeka, Okoromah, Christy A. N., Addissie, Yonit A., Pardo, Katherine L., Brough, Joseph J., Lee, Ni-Chung, Girisha, Katta M., Patil, Siddaramappa Jagdish, Ng, Ivy S. L., Min, Breana Cham Wen, Jamuar, Saumya S., Tibrewal, Shailja, Wallang, Batriti, Ganesh, Suma, Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, Sampath C., Prabodha, Lahiru L. B., Richieri-Costa, Antonio, Muthukumarasamy, Premala, Thong, Meow-Keong, Jones, Kelly L., Abdul-Rahman, Omar A., Ekure, Ekanem Nsikak, Adeyemo, Adebowale A., Summar, Marshall, Linguraru, Marius George, and Muenke, Maximilian

Published
2017
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8. Turner syndrome in diverse populations

Author

Kruszka, Paul, primary, Addissie, Yonit A., additional, Tekendo‐Ngongang, Cedrik, additional, Jones, Kelly L., additional, Savage, Sarah K., additional, Gupta, Neerja, additional, Sirisena, Nirmala D., additional, Dissanayake, Vajira H. W., additional, Paththinige, C. Sampath, additional, Aravena, Teresa, additional, Nampoothiri, Sheela, additional, Yesodharan, Dhanya, additional, Girisha, Katta M., additional, Patil, Siddaramappa Jagdish, additional, Jamuar, Saumya Shekhar, additional, Goh, Jasmine Chew‐Yin, additional, Utari, Agustini, additional, Sihombing, Nydia, additional, Mishra, Rupesh, additional, Chitrakar, Neer Shoba, additional, Iriele, Brenda C., additional, Lulseged, Ezana, additional, Megarbane, Andre, additional, Uwineza, Annette, additional, Oyenusi, Elizabeth Eberechi, additional, Olopade, Oluwarotimi Bolaji, additional, Fasanmade, Olufemi Adetola, additional, Duenas‐Roque, Milagros M., additional, Thong, Meow‐Keong, additional, Tung, Joanna Y. L., additional, Mok, Gary T. K., additional, Fleischer, Nicole, additional, Rwegerera, Godfrey M., additional, Herreros, María Beatriz, additional, Watts, Johnathan, additional, Fieggen, Karen, additional, Huckstadt, Victoria, additional, Moresco, Angélica, additional, Obregon, María Gabriela, additional, Hussen, Dalia Farouk, additional, Ashaat, Neveen A., additional, Ashaat, Engy A., additional, Chung, Brian H. Y., additional, Badoe, Eben, additional, Faradz, Sultana M. H., additional, El Ruby, Mona O., additional, Shotelersuk, Vorasuk, additional, Wonkam, Ambroise, additional, Ekure, Ekanem Nsikak, additional, Phadke, Shubha R., additional, Richieri‐Costa, Antonio, additional, and Muenke, Maximilian, additional

Published
2019
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9. Turner syndrome in diverse populations.

Author

Kruszka, Paul, Addissie, Yonit A., Tekendo‐Ngongang, Cedrik, Jones, Kelly L., Savage, Sarah K., Gupta, Neerja, Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Aravena, Teresa, Nampoothiri, Sheela, Yesodharan, Dhanya, Girisha, Katta M., Patil, Siddaramappa Jagdish, Jamuar, Saumya Shekhar, Goh, Jasmine Chew‐Yin, Utari, Agustini, Sihombing, Nydia, Mishra, Rupesh, and Chitrakar, Neer Shoba

Abstract

Turner syndrome (TS) is a common multiple congenital anomaly syndrome resulting from complete or partial absence of the second X chromosome. In this study, we explore the phenotype of TS in diverse populations using clinical examination and facial analysis technology. Clinical data from 78 individuals and images from 108 individuals with TS from 19 different countries were analyzed. Individuals were grouped into categories of African descent (African), Asian, Latin American, Caucasian (European descent), and Middle Eastern. The most common phenotype features across all population groups were short stature (86%), cubitus valgus (76%), and low posterior hairline 70%. Two facial analysis technology experiments were conducted: TS versus general population and TS versus Noonan syndrome. Across all ethnicities, facial analysis was accurate in diagnosing TS from frontal facial images as measured by the area under the curve (AUC). An AUC of 0.903 (p <.001) was found for TS versus general population controls and 0.925 (p <.001) for TS versus individuals with Noonan syndrome. In summary, we present consistent clinical findings from global populations with TS and additionally demonstrate that facial analysis technology can accurately distinguish TS from the general population and Noonan syndrome. [ABSTRACT FROM AUTHOR]

Published
2020
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12. 22q11.2 deletion syndrome in diverse populations

Author

Kruszka, Paul, primary, Addissie, Yonit A., additional, McGinn, Daniel E., additional, Porras, Antonio R., additional, Biggs, Elijah, additional, Share, Matthew, additional, Crowley, T. Blaine, additional, Chung, Brian H. Y., additional, Mok, Gary T. K., additional, Mak, Christopher C. Y., additional, Muthukumarasamy, Premala, additional, Thong, Meow-Keong, additional, Sirisena, Nirmala D., additional, Dissanayake, Vajira H. W., additional, Paththinige, C. Sampath, additional, Prabodha, L. B. Lahiru, additional, Mishra, Rupesh, additional, Shotelersuk, Vorasuk, additional, Ekure, Ekanem Nsikak, additional, Sokunbi, Ogochukwu Jidechukwu, additional, Kalu, Nnenna, additional, Ferreira, Carlos R., additional, Duncan, Jordann-Mishael, additional, Patil, Siddaramappa Jagdish, additional, Jones, Kelly L., additional, Kaplan, Julie D., additional, Abdul-Rahman, Omar A., additional, Uwineza, Annette, additional, Mutesa, Leon, additional, Moresco, Angélica, additional, Obregon, María Gabriela, additional, Richieri-Costa, Antonio, additional, Gil-da-Silva-Lopes, Vera L., additional, Adeyemo, Adebowale A., additional, Summar, Marshall, additional, Zackai, Elaine H., additional, McDonald-McGinn, Donna M., additional, Linguraru, Marius George, additional, and Muenke, Maximilian, additional

Published
2017
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13. Cover Image, Volume 173A, Number 4, April 2017

Author

Kruszka, Paul, primary, Addissie, Yonit A., additional, McGinn, Daniel E., additional, Porras, Antonio R., additional, Biggs, Elijah, additional, Share, Matthew, additional, Crowley, T. Blaine, additional, Chung, Brian H. Y., additional, Mok, Gary T. K., additional, Mak, Christopher C. Y., additional, Muthukumarasamy, Premala, additional, Thong, Meow-Keong, additional, Sirisena, Nirmala D., additional, Dissanayake, Vajira H. W., additional, Paththinige, C. Sampath, additional, Prabodha, L. B. Lahiru, additional, Mishra, Rupesh, additional, Shotelersuk, Vorasuk, additional, Ekure, Ekanem Nsikak, additional, Sokunbi, Ogochukwu Jidechukwu, additional, Kalu, Nnenna, additional, Ferreira, Carlos R., additional, Duncan, Jordann-Mishael, additional, Patil, Siddaramappa Jagdish, additional, Jones, Kelly L., additional, Kaplan, Julie D., additional, Abdul-Rahman, Omar A., additional, Uwineza, Annette, additional, Mutesa, Leon, additional, Moresco, Angélica, additional, Obregon, María Gabriela, additional, Richieri-Costa, Antonio, additional, Gil-da-Silva-Lopes, Vera L., additional, Adeyemo, Adebowale A., additional, Summar, Marshall, additional, Zackai, Elaine H., additional, McDonald-McGinn, Donna M., additional, Linguraru, Marius George, additional, and Muenke, Maximilian, additional

Published
2017
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14. Down syndrome in diverse populations

Author

Kruszka, Paul, primary, Porras, Antonio R., additional, Sobering, Andrew K., additional, Ikolo, Felicia A., additional, La Qua, Samantha, additional, Shotelersuk, Vorasuk, additional, Chung, Brian H. Y., additional, Mok, Gary T. K., additional, Uwineza, Annette, additional, Mutesa, Leon, additional, Moresco, Angélica, additional, Obregon, María Gabriela, additional, Sokunbi, Ogochukwu Jidechukwu, additional, Kalu, Nnenna, additional, Joseph, Daniel Akinsanya, additional, Ikebudu, Desmond, additional, Ugwu, Christopher Emeka, additional, Okoromah, Christy A. N., additional, Addissie, Yonit A., additional, Pardo, Katherine L., additional, Brough, J. Joseph, additional, Lee, Ni‐Chung, additional, Girisha, Katta M., additional, Patil, Siddaramappa Jagdish, additional, Ng, Ivy S. L., additional, Min, Breana Cham Wen, additional, Jamuar, Saumya S., additional, Tibrewal, Shailja, additional, Wallang, Batriti, additional, Ganesh, Suma, additional, Sirisena, Nirmala D., additional, Dissanayake, Vajira H. W., additional, Paththinige, C. Sampath, additional, Prabodha, L. B. Lahiru, additional, Richieri‐Costa, Antonio, additional, Muthukumarasamy, Premala, additional, Thong, Meow‐Keong, additional, Jones, Kelly L., additional, Abdul‐Rahman, Omar A., additional, Ekure, Ekanem Nsikak, additional, Adeyemo, Adebowale A., additional, Summar, Marshall, additional, Linguraru, Marius George, additional, and Muenke, Maximilian, additional

Published
2016
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15. Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in <italic>PAX1</italic> gene.

Author

Patil, Siddaramappa Jagdish, Das Bhowmik, Aneek, Bhat, Venkatraman, Satidevi Vineeth, Venugopal, Vasudevamurthy, Rashmi, and Dalal, Ashwin

Abstract

Otofaciocervical syndrome (OTFCS) is described as a single gene disorder of both autosomal dominant and autosomal recessive inheritance. The major clinical features of OTFCS include ear malformations (external/middle/inner ear), facial dysmorphism, shoulder girdle abnormalities, vertebral anomalies, and mild intellectual disability. The autosomal recessive form of OTFCS syndrome (OTFCS2) has been recently reported to be caused due to homozygous mutations in PAX1 gene. Here we report a third family of OTFCS2 phenotype wherein whole exome sequencing identified a novel homozygous small insertion in PAX1 as the underlying genetic cause. [ABSTRACT FROM AUTHOR]

Published
2018
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16. DISP1deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations

Author

Lavillaureix, Alinoë, Rollier, Paul, Kim, Artem, Panasenkava, Veranika, De Tayrac, Marie, Carré, Wilfrid, Guyodo, Hélène, Faoucher, Marie, Poirel, Elisabeth, Akloul, Linda, Quelin, Chloe, Whalen, Sandra, Bos, Jessica, Broekema, Marjoleine, van Hagen, Johanna M., Grand, Katheryn, Allen-Sharpley, Michelle, Magness, Emily, McLean, Scott, Kayserili, Hülya, Altunoglu, Umut, En Qi Chong, Angie, Xue, Shifeng, Jeanne, Mederic, Almontashiri, Naif, Habhab, Wisam, Vanlerberghe, Clemence, Faivre, Laurence, Viora Dupont, Eleonore, Philippe, Christophe, Safraou, Hana, Laffargue, Fanny, Mittendorf, Luisa, Abou Jamra, Rami, Patil, Siddaramappa Jagdish, Dalal, Ashwin, Sarma, Asodu Sandeep, Keren, Boris, Reversade, Bruno, Dubourg, Christèle, Odent, Sylvie, and Dupé, Valérie

Abstract

DISP1encodes a transmembrane protein that regulates the secretion of the morphogen, Sonic hedgehog,a deficiency of which is a major cause of holoprosencephaly (HPE). This disorder covers a spectrum of brain and midline craniofacial malformations. The objective of the present study was to better delineate the clinical phenotypes associated with division transporter dispatched-1 (DISP1) variants.

Published
2024
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17. Fructose-1,6-bisphosphatase deficiency caused by a novel homozygous Aluelement insertion in the FBP1gene and delayed diagnosis

Author

Ramakrishna, Somashekara Hosaagrahara, Patil, Siddaramappa Jagdish, Jagadish, Anusha Aladakatte, Sapare, Anil Kumar, Sagar, Hiremath, and Kannan, Subramanian

Abstract

Fructose-1,6-bisphosphatase (FBPase) enzyme deficiency is one of the treatable autosomal recessive inherited metabolic disorders. If diagnosed early, FBPase deficiency has a favorable prognosis. We report the clinical and biochemical findings of a 9.5-year-old female child with FBPase deficiency. FBPase deficiency is caused by a homozygous Arthrobacter luteus (Alu)insertion in the FBP1gene, reported for the first time.

Published
2017
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18. RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.

Author

Maroofian R, Sarraf P, O'Brien TJ, Kamel M, Cakar A, Elkhateeb N, Lau T, Patil SJ, Record CJ, Horga A, Essid M, Selim L, Benrhouma H, Ben Younes T, Zifarelli G, Pagnamenta AT, Bauer P, Khundadze M, Mirecki A, Kamel SM, Elmonem MA, Ghayoor Karimiani E, Jamshidi Y, Offiah AC, Rossor AM, Youssef-Turki IB, Hübner CA, Munot P, Reilly MM, Brown AEX, Nagy S, and Houlden H

Subjects
Humans, Male, Female, Child, Adult, Adolescent, Young Adult, Middle Aged, Animals, Lower Extremity physiopathology, Caenorhabditis elegans, Muscle Spasticity genetics, Muscle Spasticity physiopathology, Spastic Paraplegia, Hereditary genetics, Spastic Paraplegia, Hereditary physiopathology, Mutation, Pedigree
Abstract

Heterozygous RTN2 variants have been previously identified in a limited cohort of families affected by autosomal dominant spastic paraplegia (SPG12-OMIM:604805) with a variable age of onset. Nevertheless, the definitive validity of SPG12 remains to be confidently confirmed due to the scarcity of supporting evidence. In this study, we identified and validated seven novel or ultra-rare homozygous loss-of-function RTN2 variants in 14 individuals from seven consanguineous families with distal hereditary motor neuropathy (dHMN) using exome, genome and Sanger sequencing coupled with deep-phenotyping. All affected individuals (seven males and seven females, aged 9-50 years) exhibited weakness in the distal upper and lower limbs, lower limb spasticity and hyperreflexia, with onset in the first decade of life. Nerve conduction studies revealed axonal motor neuropathy with neurogenic changes in the electromyography. Despite a slowly progressive disease course, all patients remained ambulatory over a mean disease duration of 19.71 ± 13.70 years. Characterization of Caenorhabditis elegans RTN2 homologous loss-of-function variants demonstrated morphological and behavioural differences compared with the parental strain. Treatment of the mutant with an endoplasmic/sarcoplasmic reticulum Ca2+ reuptake inhibitor (2,5-di-tert-butylhydroquinone) rescued key phenotypic differences, suggesting a potential therapeutic benefit for RTN2-disorder. Despite RTN2 being an endoplasmic reticulum (ER)-resident membrane shaping protein, our analysis of patient fibroblast cells did not find significant alterations in ER structure or the response to ER stress. Our findings delineate a distinct form of autosomal recessive dHMN with pyramidal features associated with RTN2 deficiency. This phenotype shares similarities with SIGMAR1-related dHMN and Silver-like syndromes, providing valuable insights into the clinical spectrum and potential therapeutic strategies for RTN2-related dHMN., (© The Author(s) 2024. Published by Oxford University Press on behalf of the Guarantors of Brain.)

Published
2024
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