Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.

ABSTRACT: To date, 37 genes have been identified for nonsyndromic hearing impairment (NSHI). Identifying the functional sequence variants within these genes and knowing their population-specific frequencies is of public health value, in particular for genetic screening for NSHI. To determine putatively functional sequence variants in the transmembrane inner ear (TMIE) gene in Pakistani and Jordanian families with autosomal recessive (AR) NSHI, four Jordanian and 168 Pakistani families with ARNSHI that is not due to GJB2 (CX26) were submitted to a genome scan. Two-point and multipoint parametric linkage analyses were performed, and families with logarithmic odds (LOD) scores of 1.0 or greater within the TMIE region underwent further DNA sequencing. The evolutionary conservation and location in predic

SUBMITTER: Santos RL 

PROVIDER: S-EPMC2909111 | biostudies-literature | 2006 Mar

REPOSITORIES: biostudies-literature