Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Autor: Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O’Donovan, Maura Coughlin, Xaviere Lornage, Nicola Foulds, Simon R. Hammans, A. Reghan Foley, Charlotte M. Fare, Alice F. Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, Pinki Munot, Gautam Ambegaonkar, Rahul Phadke, Dominic G. O’Donovan, Rebecca Buchert, Mona Grimmel, Ana Töpf, Irina T. Zaharieva, Lauren Brady, Ying Hu, Thomas E. Lloyd, Andrea Klein, Maja Steinlin, Alice Kuster, Sandra Mercier, Pascale Marcorelles, Yann Péréon, Emmanuelle Fleurence, Adnan Manzur, Sarah Ennis, Rosanna Upstill-Goddard, Luca Bello, Cinzia Bertolin, Elena Pegoraro, Leonardo Salviati, Courtney E. French, Andriy Shatillo, F. Lucy Raymond, Tobias B. Haack, Susana Quijano-Roy, Johann Böhm, Isabelle Nelson, Tanya Stojkovic, Teresinha Evangelista, Volker Straub, Norma B. Romero, Jocelyn Laporte, Francesco Muntoni, Ichizo Nishino, Mark A. Tarnopolsky, James Shorter, Carsten G. Bönnemann, J. Paul Taylor

Publikováno v: Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)

Missense variants in RNA-binding proteins underlie many diseases. Here the authors report an oculopharyngeal muscular dystrophy caused by heterozygous frameshift mutations in HNRNPA2B1 that alter its nucleocytoplasmic transport dynamics and result in

Externí odkaz: https://doaj.org/article/43f9513e8b2941959cf7d7957b2785b1

Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease

Autor: Dale J. Annear, Geert Vandeweyer, Ellen Elinck, Alba Sanchis-Juan, Courtney E. French, Lucy Raymond, R. Frank Kooy

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)

Abstract Expanded CGG-repeats have been linked to neurodevelopmental and neurodegenerative disorders, including the fragile X syndrome and fragile X-associated tremor/ataxia syndrome (FXTAS). We hypothesized that as of yet uncharacterised CGG-repeat

Externí odkaz: https://doaj.org/article/29786ec0d65d4ef5b4913ce8a16e9316

Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability

Autor: Alba Sanchis-Juan, Christina Bitsara, Kay Yi Low, Keren J. Carss, Courtney E. French, Olivera Spasic-Boskovic, Joanna Jarvis, Michael Field, F. Lucy Raymond, Detelina Grozeva

Publikováno v: Frontiers in Genetics, Vol 10 (2019)

Families with multiple male children with intellectual disability (ID) are usually suspected of having disease due to a X-linked mode of inheritance and genetic studies focus on analysis of segregating variants in X-linked genes. However, the genetic

Externí odkaz: https://doaj.org/article/e8ced9a60f5941d6b7c6c46fd17370e1

Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease

Autor: Kyle Thompson, Xiao-Long Zhou, Flemming Wibrand, Wen-Qiang Zheng, Julie Vogt, Daria Diodato, Lucy Raymond, Anja Ernst, Robert W. Taylor, Emanuele Bellacchio, Rita Horvath, Jakob Ek, Benjamin Munro, Manali Chitre, Dorothy K. Grange, Tue Diemer, Elsebet Østergaard, Courtney E. French, Toni S. Pearson, Signe Vandal Pedersen

Publikováno v: Zheng, W-Q, Pedersen, S V, Thompson, K, Bellacchio, E, French, C E, Munro, B, Pearson, T S, Vogt, J, Diodato, D, Diemer, T, Ernst, A, Horvath, R, Chitre, M, Ek, J, Wibrand, F, Grange, D K, Raymond, L, Zhou, X-L, Taylor, R W & Ostergaard, E 2022, ' Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease ', Human Molecular Genetics, vol. 31, no. 4, pp. 523-534 . https://doi.org/10.1093/hmg/ddab257

TARS2 encodes human mitochondrial threonyl tRNA-synthetase that is responsible for generating mitochondrial Thr-tRNAThr and clearing mischarged Ser-tRNAThr during mitochondrial translation. Pathogenic variants in TARS2 have hitherto been reported in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e9bd1e144bbc1840db64099a40abe58
https://doi.org/10.1093/hmg/ddab257

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

Autor: Zoya Kingsbury, Andrew J. Connell, Ryan J. Taft, Alba Sanchis-Juan, Courtney E. French, Matthew E.R. Butchbach, David R. Bentley, Aditi Chawla, Xiao Chen, Isabelle Delon, Michael A. Eberle, Aaron L. Halpern, F Lucy Raymond, Nihr BioResource

Publikováno v: Genetics in Medicine
Chen, X, Sanchis-juan, A, French, C E, Connell, A J, Delon, I, Kingsbury, Z, Chawla, A, Halpern, A L, Taft, R J, Bentley, D R, Bioresource, NIHR, Williamson, C, Butchbach, M E R, Raymond, F L, Eberle, M A & Dixon, P 2020, ' Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data ', GENETICS IN MEDICINE, vol. 22, no. 5, pp. 945-953 . https://doi.org/10.1038/s41436-020-0754-0

PurposeSpinal muscular atrophy (SMA), caused by loss of the SMN1 gene, is a leading cause of early childhood death. Due to the near identical sequences of SMN1 and SMN2, analysis of this region is challenging. Population-wide SMA screening to quantif

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e691a1b29fc20874442d996b2129dc58
http://europepmc.org/articles/PMC7200598