The Diverse Genetic Landscape of Hearing Impairment in South African Families
Clinical Genetics, EarlyView.South African Families with Nonsyndromic (N = 24) and Syndromic Hearing Impairment (N = 21) with ≥ 2 affected members were analyzed. The underlying etiology was uncovered using exome and Sanger sequencing for 31 of these families. ABSTRACT To elucidate the genetic etiology of hearing impairment (HI) in South Africa, 45 nonsyndromic HI (NSHI) and ...
Thashi Bharadwaj +10 more
wiley +1 more source
TSC2 nonsense mutation in angiomyolipoma with epithelial cysts: a case report and literature review. [PDF]
Front OncolSong H +6 more
europepmc +1 more source
Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort
Clinical Genetics, EarlyView.This study analyzes 94 IRD patients from a Turkish cohort using a 141‐gene NGS panel, achieving a 74% diagnostic yield. The identification of 28 novel variants highlights the genetic diversity of IRDs in Türkiye and underscores the value of population‐specific molecular testing.
Şenol Demir +7 more
wiley +1 more source
Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia
Human Mutation, 2012 R. Sánchez‐Alcudia +3 more
semanticscholar +1 more source
RNA Analysis Enables Resolution and Reclassification of Reportedly Benign Synonymous Variants
Clinical Genetics, EarlyView.Synonymous variants previously reported as benign present a diagnostic challenge in clinical exome sequencing. We show three cases where RNA studies demonstrated aberrant splicing and enabled reclassification of the variants. ABSTRACT Synonymous variants can significantly impact protein levels and function, particularly through alterations in RNA ...
Adina Fuchs +10 more
wiley +1 more source
A novel nonsense mutation of the GTP cyclohydrolase I gene in a family with doparesponsive dystonia
, 2000 Kyeong‐Man Hong +2 more
openalex +1 more source
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.
American Journal of Human Genetics, 2012 S. Kohl +14 more
semanticscholar +1 more source
Clinical Genetics, EarlyView.We present a clinical and molecular characterization of 16 Brazilian individuals with Xia–Gibbs syndrome, identifying 12 novel AHDC1 variants and four phenotypes not previously associated. Our findings support existing genotype–phenotype associations and suggest a new relation, expanding the known phenotypic and genetic spectrum of the syndrome ...
Maísa Ganz Sanchez Sennes +23 more
wiley +1 more source
A novel nonsense mutation c.747C>G in the NEUROD1 gene detected within a Chinese family affected by maturity-onset diabetes of the young type 6. [PDF]
J DiabetesLi Y +5 more
europepmc +1 more source
Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis
European Respiratory Journal, 2011 M. Wilschanski +18 more
semanticscholar +1 more source