Ontology highlight
ABSTRACT:
SUBMITTER: McCullough BJ
PROVIDER: S-EPMC1995240 | biostudies-literature | 2007 Feb
REPOSITORIES: biostudies-literature
McCullough Brendan J BJ Adams Joe C JC Shilling Dustin J DJ Feeney M Patrick MP Sie Kathleen C Y KC Tempel Bruce L BL
Hearing research 20070108 1-2
Deletions affecting the terminal end of chromosome 3p result in a characteristic set of clinical features termed 3p-- syndrome. Bilateral, sensorineural hearing loss (SNHL) has been found in some but not all cases, suggesting the possibility that it is due to loss of a critical gene in band 3p25. To date, no genetic locus in this region has been shown to cause human hearing loss. However, the ATP2B2 gene is located in 3p25.3, and haploinsufficiency of the mouse homolog results in SNHL with simil ...[more]