Web22 May 2014 · We found that the CATSPER2 gene was involved in 77.0% (10/13) of these patients, including one individual in which the deletion encompassed only CATSPER2 and ψSTRC and not STRC. Four individuals were homozygotes for a large contiguous STRC-ψSTRC-CATSPER2 deletion, indicating that they in fact are affected by DIS and not NSHL. … Web27 Feb 2024 · In the evaluation of CNV, one copy number alteration residing in STRC and CATSPER2, which are both known hearing loss genes, was detected by both EXCAVATOR2 and in-house CNV tool from only SB246–482 (Fig. 5a, b). The deletion of STRC and CATSPER2 of SB246-482, if in a homozygous form, could be pathogenic, leading to …
UniProt
WebCharacterized by deafness and infertility and is caused by large contiguous gene deletions at 15q15.3 that removes both STRC and CATSPER2 genes. See also MIM: 611102 Variants Keywords Disease # Deafness # Non-syndromic deafness Organism-specific databases DisGeNET 161497 GeneReviews STRC MIM 603720 phenotype 606440 gene 611102 … Web2 Dec 2024 · This deletion involves the STRC and CATSPER2 genes, which are responsible for the structure of stereocilia in the ear ( 6) and for sperm motility ( 7 ), respectively. DIS is characterized by prelingual, nonprogressive sensorineural hearing loss in individuals who are homozygous for the deletion and by infertility in males. cynthia lloyd realtor
CATSPER -Related Male Infertility - PubMed
WebThe CATSPER2 gene provides instructions for producing a protein that is found in the tail (flagellum) of sperm cells. The CATSPER2 protein plays a role in sperm cell movement … WebThe STRC gene is associated with autosomal recessive hearing loss that is typically mild to moderate. The pathogenic variant spectrum includes sequence variants, large deletions of … WebTwo clusters containing several unique probes could reliably detect CNVs involving STRC and CATSPER2, despite the noise of surrounding probes, discriminating between … cynthia l miller-dobalian md