Identification of Novel USH2A Mutations in a Consanguineous Chinese Family With Usher Syndrome

• Published in: Human mutation Vol. 2025; p. 6391770
• Main Authors: Wang, Haolin, Wei, Bo, Guo, Jiaxin, Wu, Xiawei, Zou, Tongdan, Wang, Ting, Zhang, Tiantian, Gong, Bo, Hao, Jilong, Zhang, Houbin, Wang, Le
• Format: Journal Article
• Language: English
• Published: United States John Wiley & Sons, Inc 01.01.2025; Wiley
• Subjects: Acoustics; Blood vessels; Compliance; Consanguinity; Ears & hearing; East Asian People - genetics; Exome Sequencing; Extracellular Matrix Proteins - chemistry; Extracellular Matrix Proteins - genetics; Female; Genes; Genetic testing; Hearing loss; Humans; Male; Mutation; Pedigree; Phenotype; Photoreceptors; Proteins; USH2A protein; Usher Syndromes - diagnosis; Usher Syndromes - genetics; Usher's syndrome; United States > US; China

Usher syndrome (USH) is a rare genetic disease characterized by sensorineural deafness and blindness called retinitis pigmentosa, and it is inherited in an autosomal recessive pattern with a prevalence of four to 17 per 100,000 people worldwide. In this study, a consanguineous Chinese family with US...