WebSep 16, 2010 · In conclusion, the mutation analysis of MYO7A and CDH23 led to the identification of five mutations in four patients. This frequency (80%) indicates that mutation screening for these genes is a ...
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) AND …
WebApr 28, 2014 · The present study is the first to show that CDH23 mutations cause hearing loss in Koreans. Although the precise contribution made by such mutations needs to be determined using a larger patient cohort, our data indicate that mutations in the CDH23 gene are one of the most important causes of non-syndromic hearing loss in East Asians. WebMar 19, 2012 · A number sign (#) is used with this entry because of evidence that nonsyndromic autosomal recessive deafness-12 (DFNB12) is caused by homozygous or compound heterozygous mutation in the cadherin-23 gene (CDH23; 605516) on chromosome 10q22. There is also evidence that a mutation in the ATP2B2 gene … care specialty pharmacy
Frontiers Targeted Next-Generation Sequencing Identified Novel ...
• McHugh RK, Friedman RA (2006). "Genetics of hearing loss: Allelism and modifier genes produce a phenotypic continuum". The Anatomical Record Part A: Discoveries in Molecular, Cellular, and Evolutionary Biology. 288A (4): 370–81. doi:10.1002/ar.a.20297. PMID 16550584. • Marres HA, Cremers CW (1989). "Autosomal recessive nonsyndromal profound childhood deafness in a large pedigree. Audiometric features of the affected persons and the obligate carriers". Archives of Ot… WebApr 30, 2024 · Mutations in the CDH23 gene cause USH1D ( Bolz et al., 2001; Bork et al., 2001 ). Germline mutations in CDH23 have also recently been identified and associated with both familial and sporadic pituitary adenomas ( Zhang et al., 2024 ). The upregulation of this gene may also be associated with breast cancer. WebNov 1, 2007 · The p.P240L variant has been reported to be a predominant CDH23 mutation among Japanese and Korean people, accounting for around 45% or even over 50% of the total number of CDH23 mutations and has ... care sphere