Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study

• Published in: Journal of medical genetics Vol. 49; no. 1; pp. 27 - 36
• Main Authors: Le Quesne Stabej, Polona, Saihan, Zubin, Rangesh, Nell, Steele-Stallard, Heather B, Ambrose, John, Coffey, Alison, Emmerson, Jenny, Haralambous, Elene, Hughes, Yasmin, Steel, Karen P, Luxon, Linda M, Webster, Andrew R, Bitner-Glindzicz, Maria
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.01.2012; BMJ Publishing Group; BMJ Publishing Group LTD; BMJ Group
• Series: Original article
• Subjects: Audiology; Biological and medical sciences; clinical genetics; Cohort Studies; Collaboration; Congenital diseases; digenic; DNA Mutational Analysis; DNA sequence analysis; Families & family life; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genes; Genetic Association Studies; Genetics of eukaryotes. Biological and molecular evolution; Genotype; Genotype-Phenotype Correlations; Hearing loss; Hearing protection; Humans; Medical genetics; Medical sciences; Molecular and cellular biology; molecular genetics; Multifactorial Inheritance; Mutation; Ophthalmology; Polymorphism, Single Nucleotide; retinitis pigmentosa; Retinopathies; UK population; United Kingdom; Usher; Usher Syndromes - genetics; Velocity; United Kingdom; Europe; United Kingdom > UK; United States > US; California; Human; Eye disease; Retinopathy; Gene; Usher syndrome; ENT disease; Genetics; Genetic disease

Background Usher syndrome (USH) is an autosomal recessive disorder comprising retinitis pigmentosa, hearing loss and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous with three distinctive clinical types (I–III) and nine Usher genes identified. This study is a c...