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2. The practice of genomic medicine: A delineation of the process and its governing principles

Author

Handra, Julia, primary, Elbert, Adrienne, additional, Gazzaz, Nour, additional, Moller-Hansen, Ashley, additional, Hyunh, Stephanie, additional, Lee, Hyun Kyung, additional, Boerkoel, Pierre, additional, Alderman, Emily, additional, Anderson, Erin, additional, Clarke, Lorne, additional, Hamilton, Sara, additional, Hamman, Ronnalea, additional, Hughes, Shevaun, additional, Ip, Simon, additional, Langlois, Sylvie, additional, Lee, Mary, additional, Li, Laura, additional, Mackenzie, Frannie, additional, Patel, Millan S., additional, Prentice, Leah M., additional, Sangha, Karan, additional, Sato, Laura, additional, Seath, Kimberly, additional, Seppelt, Margaret, additional, Swenerton, Anne, additional, Warnock, Lynn, additional, Zambonin, Jessica L., additional, Boerkoel, Cornelius F., additional, Chin, Hui-Lin, additional, and Armstrong, Linlea, additional

Published
2023
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4. Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

Author

Hochberg, Irit, primary, Demain, Leigh A.M., additional, Richer, Julie, additional, Thompson, Kyle, additional, Urquhart, Jill E., additional, Rea, Alessandro, additional, Pagarkar, Waheeda, additional, Rodríguez-Palmero, Agustí, additional, Schlüter, Agatha, additional, Verdura, Edgard, additional, Pujol, Aurora, additional, Quijada-Fraile, Pilar, additional, Amberger, Albert, additional, Deutschmann, Andrea J., additional, Demetz, Sandra, additional, Gillespie, Meredith, additional, Belyantseva, Inna A., additional, McMillan, Hugh J., additional, Barzik, Melanie, additional, Beaman, Glenda M., additional, Motha, Reeya, additional, Ng, Kah Ying, additional, O’Sullivan, James, additional, Williams, Simon G., additional, Bhaskar, Sanjeev S., additional, Lawrence, Isabella R., additional, Jenkinson, Emma M., additional, Zambonin, Jessica L., additional, Blumenfeld, Zeev, additional, Yalonetsky, Sergey, additional, Oerum, Stephanie, additional, Rossmanith, Walter, additional, Yue, Wyatt W., additional, Zschocke, Johannes, additional, Munro, Kevin J., additional, Battersby, Brendan J., additional, Friedman, Thomas B., additional, Taylor, Robert W., additional, O’Keefe, Raymond T., additional, and Newman, William G., additional

Published
2021
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5. Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

Author

Hochberg, Irit, Demain, Leigh A.M., Richer, Julie, Thompson, Kyle, Urquhart, Jill E., Rea, Alessandro, Pagarkar, Waheeda, Rodríguez-Palmero, Agustí, Schlüter, Agatha, Verdura, Edgard, Pujol, Aurora, Quijada-Fraile, Pilar, Amberger, Albert, Deutschmann, Andrea J., Demetz, Sandra, Gillespie, Meredith, Belyantseva, Inna A., McMillan, Hugh J., Barzik, Melanie, Beaman, Glenda M., Motha, Reeya, Ng, Kah Ying, O'Sullivan, James, Williams, Simon G., Bhaskar, Sanjeev S., Lawrence, Isabella R., Jenkinson, Emma M., Zambonin, Jessica L., Blumenfeld, Zeev, Yalonetsky, Sergey, Oerum, Stephanie, Rossmanith, Walter, Yue, Wyatt W., Zschocke, Johannes, Munro, Kevin J., Battersby, Brendan J., Friedman, Thomas B., Taylor, Robert W., O'Keefe, Raymond T., Newman, William G., Hochberg, Irit, Demain, Leigh A.M., Richer, Julie, Thompson, Kyle, Urquhart, Jill E., Rea, Alessandro, Pagarkar, Waheeda, Rodríguez-Palmero, Agustí, Schlüter, Agatha, Verdura, Edgard, Pujol, Aurora, Quijada-Fraile, Pilar, Amberger, Albert, Deutschmann, Andrea J., Demetz, Sandra, Gillespie, Meredith, Belyantseva, Inna A., McMillan, Hugh J., Barzik, Melanie, Beaman, Glenda M., Motha, Reeya, Ng, Kah Ying, O'Sullivan, James, Williams, Simon G., Bhaskar, Sanjeev S., Lawrence, Isabella R., Jenkinson, Emma M., Zambonin, Jessica L., Blumenfeld, Zeev, Yalonetsky, Sergey, Oerum, Stephanie, Rossmanith, Walter, Yue, Wyatt W., Zschocke, Johannes, Munro, Kevin J., Battersby, Brendan J., Friedman, Thomas B., Taylor, Robert W., O'Keefe, Raymond T., and Newman, William G.

Abstract

Human mitochondrial RNase P (mt-RNase P) is responsible for 5' end processing of mitochondrial precursor tRNAs, a vital step in mitochondrial RNA maturation, and is comprised of three protein subunits: TRMT10C, SDR5C1 (HSD10), and PRORP. Pathogenic variants in TRMT10C and SDR5C1 are associated with distinct recessive or x-linked infantile onset disorders, resulting from defects in mitochondrial RNA processing. We report four unrelated families with multisystem disease associated with bi-allelic variants in PRORP, the metallonuclease subunit of mt-RNase P. Affected individuals presented with variable phenotypes comprising sensorineural hearing loss, primary ovarian insufficiency, developmental delay, and brain white matter changes. Fibroblasts from affected individuals in two families demonstrated decreased steady state levels of PRORP, an accumulation of unprocessed mitochondrial transcripts, and decreased steady state levels of mitochondrial-encoded proteins, which were rescued by introduction of the wild-type PRORP cDNA. In mt-tRNA processing assays performed with recombinant mt-RNase P proteins, the disease-associated variants resulted in diminished mitochondrial tRNA processing. Identification of disease-causing variants in PRORP indicates that pathogenic variants in all three subunits of mt-RNase P can cause mitochondrial dysfunction, each with distinct pleiotropic clinical presentations.

Published
2021

7. Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.

Author

Zambonin, Jessica L., Bellomo, Allison, Hilla Ben-Pazi, Everman, David B., Frazer, Lee M., Geraghty, Michael T., Harper, Amy D., Jones, Julie R., Kamien, Benjamin, Kernohan, Kristin, Koenig, Mary Kay, Lines, Matthew, Palmer, Elizabeth Emma, Richardson, Randal, Segel, Reeval, Tarnopolsky, Mark, Vanstone, Jason R., Gibbons, Melissa, Collins, Abigail, and Fogel, Brent L.

Subjects
*SPINOCEREBELLAR ataxia, *CEREBELLUM degeneration, *SPINAL cord diseases, *GENETIC mutation, *BRAIN imaging, *CEREBELLAR ataxia, *PROTEINS, *RESEARCH funding, *RETROSPECTIVE studies
Abstract

Background: Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia characterized by infantile-onset hypotonia, gross motor delay and cognitive impairment. Affected individuals exhibit cerebellar dysfunction and often have cerebellar atrophy on neuroimaging. Recently, missense mutations in ITPR1 were determined to be responsible.Results: Clinical information on 21 individuals from 15 unrelated families with ITPR1 mutations was retrospectively collected using standardized questionnaires, including 11 previously unreported singletons and 2 new patients from a previously reported family. We describe the genetic, clinical and neuroimaging features of these patients to further characterize the clinical features of this rare condition and assess for any genotype-phenotype correlation for this disorder. Our cohort consisted of 9 males and 12 females, with ages ranging from 28 months to 49 years. Disease course was non-progressive with infantile-onset hypotonia and delays in motor and speech development. Gait ataxia was present in all individuals and 10 (48%) were not ambulating independently between the ages of 3-12 years of age. Mild-to-moderate cognitive impairment was present in 17 individuals (85%). Cerebellar atrophy developed after initial symptom presentation in 13 individuals (72%) and was not associated with disease progression or worsening functional impairment. We identified 12 different mutations including 6 novel mutations; 10 mutations were missense (with 4 present in >1 individual), 1 a splice site mutation leading to an in-frame insertion and 1 an in-frame deletion. No specific genotype-phenotype correlations were observed within our cohort.Conclusions: Our findings document significant clinical heterogeneity between individuals with SCA29 in a large cohort of molecularly confirmed cases. Based on the retrospective observed clinical features and disease course, we provide recommendations for management. Further research into the natural history of SCA29 through prospective studies is an important next step in better understanding the condition. [ABSTRACT FROM AUTHOR]

Published
2017
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