Tooze, Rebecca S Calpena, Eduardo Twigg, Stephen R F D'Arco, Felice Wakeling, Emma L Wilkie, Andrew O M
Published in
Journal of medical genetics
SPRY1 encodes protein sprouty homolog 1 (Spry-1), a negative regulator of receptor tyrosine kinase signalling. Null mutant mice display kidney/urinary tract abnormalities and altered size of the skull; complete loss-of-function of Spry-1 in humans has not been reported. Analysis of whole-genome sequencing data from individuals with craniosynostosis...
Loong, Lucy Huntley, Catherine McRonald, Fiona Santaniello, Francesco Pethick, Joanna Torr, Bethany Allen, Sophie Tulloch, Oliver Goel, Shilpi Shand, Brian
...
Published in
Journal of medical genetics
To describe national patterns of National Health Service (NHS) analysis of mismatch repair (MMR) genes in England using individual-level data submitted to the National Disease Registration Service (NDRS) by the NHS regional molecular genetics laboratories. Laboratories submitted individual-level patient data to NDRS against a prescribed data model,...
Niarchou, Maria Cunningham, Adam C Chawner, Samuel J R A Moulding, Hayley Sopp, Matthew Hall, Jeremy Owen, Michael J van den Bree, Marianne B M
Published in
Journal of medical genetics
Caring for children with pathogenic neurodevelopmental Copy Number Variants (CNVs) (ie, deletions and duplications of genetic material) can place a considerable burden on parents and their quality of life. Our study is the first to examine the frequency of psychiatric diagnoses in mothers of children with CNVs compared with the frequency of psychia...
Hughes, Derralynn A Bichet, Daniel G Giugliani, Roberto Hopkin, Robert J Krusinska, Eva Nicholls, Kathleen Olivotto, Iacopo Feldt-Rasmussen, Ulla Sakai, Norio Skuban, Nina
...
Published in
Journal of medical genetics
Fabry disease is a rare, multisystemic disorder caused by GLA gene variants that lead to alpha galactosidase A deficiency, resulting in accumulation of glycosphingolipids and cellular dysfunction. Fabry-associated clinical events (FACEs) cause significant morbidity and mortality, yet the long-term effect of Fabry therapies on FACE incidence remains...
Simonin-Wilmer, Irving Ossio, Raul Leddin, Emmett M Harland, Mark Pooley, Karen A Martil de la Garza, Mauricio Gerardo Obolenski, Sofia Hewinson, James Wong, Chi C Iyer, Vivek
...
Published in
Journal of medical genetics
Pathogenic germline variants in the protection of telomeres 1 gene (POT1) have been associated with predisposition to a range of tumour types, including melanoma, glioma, leukaemia and cardiac angiosarcoma. We sequenced all coding exons of the POT1 gene in 2928 European-descent melanoma cases and 3298 controls, identifying 43 protein-changing genet...
Wren, Georgina Baker, Emily Underwood, Jack Humby, Trevor Thompson, Andrew Kirov, George Escott-Price, Valentina Davies, William
Published in
Journal of medical genetics
Genetic deletions at Xp22.31 are associated with the skin condition X linked ichthyosis (XLI), and with a substantially increased risk of atrial fibrillation/flutter (AF), in males. AF is associated with elevated thrombosis, heart failure, stroke and dementia risk. Through: (a) examining deletion carriers with a diagnosis of AF in UK Biobank, (b) u...
Soares de Lima, Yasmin Arnau-Collell, Coral Muñoz, Jenifer Herrera-Pariente, Cristina Moreira, Leticia Ocaña, Teresa Díaz-Gay, Marcos Franch-Expósito, Sebastià Cuatrecasas, Miriam Carballal, Sabela
...
Published in
Journal of medical genetics
Patients with serrated polyposis syndrome (SPS) have multiple and/or large serrated colonic polyps and higher risk for colorectal cancer. SPS inherited genetic basis is mostly unknown. We aimed to identify new germline predisposition factors for SPS by functionally evaluating a candidate gene and replicating it in additional SPS cohorts. After a pr...
Morison, Lottie D Meffert, Elisabeth Stampfer, Miriam Steiner-Wilke, Irene Vollmer, Brigitte Schulze, Katrin Briggs, Tracy Braden, Ruth Vogel, Adam Thompson-Lake, Daisy
...
Published in
Journal of medical genetics
Heterozygous disruptions of FOXP2 were the first identified molecular cause for severe speech disorder: childhood apraxia of speech (CAS), and yet few cases have been reported, limiting knowledge of the condition. Here we phenotyped 28 individuals from 17 families with pathogenic FOXP2-only variants (12 loss-of-function, five missense variants; 14 ...
Segarra-Casas, Alba Domínguez-González, Cristina Hernández-Laín, Aurelio Sanchez-Calvin, Maria Teresa Camacho, Ana Rivas, Eloy Campo-Barasoain, Andrea Madruga, Marcos Ortez, Carlos Natera-de Benito, Daniel
...
Published in
Journal of medical genetics
Up to 7% of patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) remain genetically undiagnosed after routine genetic testing. These patients are thought to carry deep intronic variants, structural variants or splicing alterations not detected through multiplex ligation-dependent probe amplification or exome sequencing...
Kolvenbach, Caroline M Felger, Tim Schierbaum, Luca Thiffault, Isabelle Pastinen, Tomi Szczepańska, Maria Zaniew, Marcin Adamczyk, Piotr Bayat, Allan Yilmaz, Öznur
...
Published in
Journal of medical genetics
SHROOM4 is thought to play an important role in cytoskeletal modification and development of the early nervous system. Previously, single-nucleotide variants (SNVs) or copy number variations (CNVs) in SHROOM4 have been associated with the neurodevelopmental disorder Stocco dos Santos syndrome, but not with congenital anomalies of the urinary tract ...
