Ontology highlight
ABSTRACT:
SUBMITTER: Jaworek TJ
PROVIDER: S-EPMC3596105 | biostudies-literature | 2012 Oct
REPOSITORIES: biostudies-literature
Jaworek Thomas J TJ Bhatti Rashid R Latief Noreen N Khan Shaheen N SN Riazuddin Saima S Ahmed Zubair M ZM
Journal of human genetics 20120621 10
We ascertained two large Pakistani consanguineous families (PKDF231 and PKDF608) segregating profound hearing loss, vestibular dysfunction, and retinitis pigmentosa; the defining features of Usher syndrome type 1 (USH1). To date, seven USH1 loci have been reported. Here, we map a novel locus, USH1K, on chromosome 10p11.21-q21.1. In family PKDF231, we performed a genome-wide linkage screen and found a region of homozygosity shared among the affected individuals at chromosome 10p11.21-q21.1. Meiot ...[more]