Hara-Isono, Kaori Yamazawa, Kazuki Tanaka, Satsuki Nishi, Eriko Fukami, Maki Kagami, Masayo
Published in
Journal of medical genetics
Two imprinting control centres, H19/IGF2:IG-differentialy methylated region (DMR) and KCNQ1OT1:TSS-DMR, reside on chromosome 11p15.5. Paternal deletions involving the KCNQ1OT1:TSS-DMR result in variable phenotypes, namely, normal phenotype, Silver-Russel syndrome (SRS) and fetal demise. However, expression analyses for CDKN1C in these patients are ...
Sena, Cecilia Iannello, Grazia Skowronski, Alicja A Dannheim, Katelyn Cheung, Leonard Agrawal, Pankaj B Hirschhorn, Joel N Zeitler, Phillip LeDuc, Charles A Stratigopoulos, George
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Published in
Journal of medical genetics
Lowe syndrome (LS) is an X linked disease caused by pathogenic variants in the OCRL gene that impacts approximately 1 in 500 000 children. Classic features include congenital cataract, cognitive/behavioural impairment and renal tubulopathy. This study is a retrospective review of clinical features reported by family based survey conducted by Lowe S...
Hessl, David Rosselot, Hilary Miller, Robert Espinal, Glenda Famula, Jessica Sherman, Stephanie L Todd, Peter K Cabal Herrera, Ana Maria Lipworth, Karen Cohen, Jonathan
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Published in
Journal of medical genetics
FMR1 premutation cytosine-guanine-guanine repeat expansion alleles are relatively common mutations in the general population that are associated with a neurodegenerative disease (fragile X-associated tremor/ataxia syndrome), reproductive health problems and potentially a wide range of additional mental and general health conditions that are not yet...
Verdura, Edgard Senger, Bruno Raspall-Chaure, Miquel Schlüter, Agatha Launay, Nathalie Ruiz, Montserrat Casasnovas, Carlos Rodriguez-Palmero, Agustí Macaya, Alfons Becker, Hubert Dominique
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Published in
Journal of medical genetics
Aminoacyl-tRNA synthetases (ARS) are key enzymes catalysing the first reactions in protein synthesis, with increasingly recognised pleiotropic roles in tumourgenesis, angiogenesis, immune response and lifespan. Germline mutations in several ARS genes have been associated with both recessive and dominant neurological diseases. Recently, patients aff...
Best, Sunayna Yu, Jing Lord, Jenny Roche, Matthew Watson, Christopher Mark Bevers, Roel P J Stuckey, Alex Madhusudhan, Savita Jewell, Rosalyn Sisodiya, Sanjay M
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Published in
Journal of medical genetics
The 100 000 Genomes Project (100K) recruited National Health Service patients with eligible rare diseases and cancer between 2016 and 2018. PanelApp virtual gene panels were applied to whole genome sequencing data according to Human Phenotyping Ontology (HPO) terms entered by recruiting clinicians to guide focused analysis. We developed a reverse p...
Hu, Jingjing Yang, Kun Zhao, Yongchao Wei, Zilun Yang, Lebing Gao, Rifeng Wu, Yonghui Xu, Lei Xu, Sujuan Hu, Kai
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Published in
Journal of medical genetics
The SCN5A variant is a common cause of familial dilated cardiomyopathy (DCM). We previously reported a SCN5A variant (c.674G>A), located in the high-risk S4 segment of domain I (DI-S4) region in patients with idiopathic DCM and R225Q knockin (p.R225Q) mice carrying the c.674G>A variant exhibited prolonged baseline PR intervals without DCM phenotype...
Torr, Bethany Jones, Christopher Choi, Subin Allen, Sophie Kavanaugh, Grace Hamill, Monica Garrett, Alice MacMahon, Suzanne Loong, Lucy Reay, Alistair
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Published in
Journal of medical genetics
Germline genetic testing affords multiple opportunities for women with breast cancer, however, current UK NHS models for delivery of germline genetic testing are clinician-intensive and only a minority of breast cancer cases access testing. We designed a rapid, digital pathway, supported by a genetics specialist hotline, for delivery of germline te...
Sano, Yusuke Koyanagi, Yoshito Wong, Jing Hao Murakami, Yusuke Fujiwara, Kohta Endo, Mikiko Aoi, Tomomi Hashimoto, Kazuki Nakazawa, Toru Wada, Yuko
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Published in
Journal of medical genetics
Despite the successful identification of causative genes and genetic variants of retinitis pigmentosa (RP), many patients have not been molecularly diagnosed. Our recent study using targeted short-read sequencing showed that the proportion of carriers of pathogenic variants in EYS, the cause of autosomal recessive RP, was unexpectedly high in Japan...
Cornière, Nicolas Thomson, R Brent Thauvin, Stéphanie Villoutreix, Bruno O Karp, Sophie Dynia, Diane W Burlein, Sarah Brinkmann, Lennart Badreddine, Alaa Dechaume, Aurélie
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Published in
Journal of medical genetics
Nephrolithiasis (NL) is a complex multifactorial disease affecting up to 10%-20% of the human population and causing a significant burden on public health systems worldwide. It results from a combination of environmental and genetic factors. Hyperoxaluria is a major risk factor for NL. We used a whole exome-based approach in a patient with calcium ...
Patel, Paras A Hegert, Julia V Cristian, Ingrid Kerr, Alicia LaConte, Leslie E W Fox, Michael A Srivastava, Sarika Mukherjee, Konark
Published in
Journal of medical genetics
Heterozygous loss of X-linked genes like CASK and MeCP2 (Rett syndrome) causes developmental delay in girls, while in boys, loss of the only allele of these genes leads to epileptic encephalopathy. The mechanism for these disorders remains unknown. CASK-linked cerebellar hypoplasia is presumed to result from defects in Tbr1-reelin-mediated neuronal...
