Results 101 to 110 of about 537,790 (185)

Whole-genome sequencing, as a powerful diagnostic tool in hearing loss, reveals novel variants in PTPRQ missed by whole-exome sequencing

BMC Medical Genomics
Background/objectives Hearing loss (HL) is one of the most common congenital disorders, affecting 1-2 in 1,000 newborns. Modern genetic diagnostics using large gene panels and/or whole exome analysis (WES) can identify disease-causing mutations in 25-50 %
Daniel Bengl, Asuman Koparir, Wahyu Eka Prastyo, Christian Remmele, Marcus Dittrich, Sophie Flandin, Waafa Shehata-Dieler, Clemens Grimm, Thomas Haaf, Michaela A. H. Hofrichter   +9 more
doaj   +1 more source

Case Report: A Canonical Splice-Site COL4A5 Variant in Alport Syndrome in a Kazakhstani Family

Current Issues in Molecular Biology
Background: Alport syndrome is a hereditary disorder caused by defects in the type IV collagen network. Although exon variants are primarily associated with Alport syndrome, the clinical significance of intronic variants remains incompletely ...
Diana Basharova, Ayazhan Bekbayeva, Gulnara Svyatova, Aizhan Darmeshova, Elena Zholdybayeva   +4 more
doaj   +1 more source

Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity

Journal of Human Immunity
Clinical laboratories searching for pathogenic variants focus mostly on the protein-coding region and corresponding essential splicing sites. Screening for variants in intronic regions requires dedicated bioinformatics tools and detailed experimental studies to confirm deleteriousness and pathogenicity.
Alioua, Najiba, Lambert, Nathalie, Puel, Mathilde, Hanein, Sylvain, Bastard, Paul, Fusaro, Mathieu, Jaffray, Marie, Medel, Bernardita, Khellaf, Lydia, Seeleuthner, Yoann, Perin, Mélodie, Jacques, Corinne, Pasquet, Marlène, Olivier, Laura, Sepulveda, Fernando, Le Voyer, Tom, Cobat, Aurélie, Nitschké, Patrick, Galicier, Lionel, Schleinitz, Nicolas, Oksenhendler, Eric, Malphettes, Marion, Neven, Bénédicte, Moshous, Despina, Suarez, Felipe, Fieschi, Claire, Casanova, Jean-Laurent, de Saint Basile, Geneviève, Dorval, Guillaume, Picard, Capucine, Bustamante, Jacinta, Zhang, Peng, Rosain, Jérémie   +32 more
openaire   +2 more sources

Stepwise genetic testing strategy identified pathogenic variants in 10 Chinese duchenne muscular dystrophy patients

Frontiers in Genetics
BackgroundDuchenne muscular dystrophy (DMD) results from pathogenic variants in the DMD gene. Despite routine screening using Multiplex Ligation-dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES), a subset of cases remains molecularly ...
Dengzhi Zhao, Wenke Yang, Ke Yang, Dong Wu, Na Qi, Shixiu Liao   +5 more
doaj   +1 more source

A deep intronic SMARCB1 variant associated with schwannomatosis

Clinical Genetics, 2019
Miriam J. Smith, Naomi L. Bowers, Catherine Banks, Rosanna Coates‐Brown, Katrina A. Morris, Lisa Ewans, Meredith Wilson, Jason Pinner, Sanjeev S. Bhaskar, Francisco Cammarata‐Scalisi, Andrew J. Wallace, Daffyd Gareth R. Evans   +11 more
openaire   +3 more sources

Case Report: A case with Xeroderma pigmentosum type F manifested a mild phenotype due to a deep intronic variant of the ERCC4 gene

Journal of Cutaneous Immunology and Allergy
Xeroderma pigmentosum (XP) is a disorder that causes sun sensitivity, pigmented spots in sun-exposed areas, and neurological symptoms due to an inborn error in the DNA repair process for damage caused by sun exposure. We report a case with XP type F (XPF)
Mei Tochigi, Yuko Takamiya, Megumi Morita, Kazushi Anzawa, Akira Shimizu, Sumihito Togi, Hiroki Ura, Yo Niida   +7 more
doaj   +1 more source

Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant

Background: Loose anagen hair syndrome is a recently described genetic form of non-scarring alopecia that occurs in children and is due to poorly anchored hair shafts during the anagen phase.
Elizabeth Phillippi, Marcelo Melo, Hatem El-Shanti, Kelly N. Messingham   +3 more
core   +1 more source

Variants in CALD1, ESRP1, and RBFOX1 are associated with orofacial cleft risk.

PLoS Genetics
Nonsyndromic orofacial clefts (OFCs) are common, heritable birth defects caused by both genetic and environmental risk factors. Despite the identification of many genetic loci harboring OFC-risk variants, there are many unknown genetic determinants of ...
Jenna C Carlson, Xinyi Zhang, Zeynep Erdogan-Yildirim, Terri H Beaty, Azeez Butali, Carmen J Buxó, Lord J J Gowans, Jacqueline T Hecht, Ross E Long, Lina Moreno, Jeffrey C Murray, Ieda M Orioli, Carmencita Padilla, George L Wehby, Eleanor Feingold, Elizabeth J Leslie-Clarkson, Seth M Weinberg, Mary L Marazita, John R Shaffer   +18 more
doaj   +1 more source

Identification and pathogenicity analysis of a novel intronic COL4A5 variant in a Chinese family

Frontiers in Medicine
BackgroundX-linked Alport syndrome (XLAS) is a disorder of type IV collagen structure caused by pathogenic variants of the COL4A5 gene and characterized by progressive kidney disease, hearing loss, and ocular abnormalities. Although mutation screening is
Pei Qian, Hui-mei Huang, Lei Suo, Zhijuan Li, Min Zhang, Ying Bao   +5 more
doaj   +1 more source

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

Annals of Clinical and Translational Neurology
Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD.
Jiao‐Jiao Xu, Yu‐Lan Chen, Wan‐Bing Sun, Hong‐Fu Li, Zhi‐Ying Wu, Dian‐Fu Chen   +5 more
doaj   +1 more source