The STRC gene has been associated with autosomal recessive non syndromic hearing loss (ARNSHL) in (at least) 7 probands in 3 publications. 8 unique variants (missense, nonsense, frameshift, large deletion) have been reported in humans, and variants in this gene segregated with disease in # additional family members. STRC was first associated with this disease in humans in 2001 (Verpy et al.). More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. The mechanism for disease is homozygous loss of function that leads to dysfunction or lack of function of the stereocilia in the inner ear. This gene-disease association is supported by a knockout mouse model designed by Verpy et al. 2008 as well as expression studies showing localization of the stereocilin protein in the inner ear. It is important to note that STRC is in close proximity with the CATSPER gene which has been found to be crucial to sperm viability and therefore large deletions of the region encompassing STRC and CATSPER2 have been shown to cause hearing loss as well as male infertility (See genereviews Hildebrand 2017 PMID: 20301780). In summary, STRC is definitively associated with ARNSHL. This has been repeatedly demonstrated in clinical diagnostic settings and has been upheld over time.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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