Leucine Rich Transmembrane And 0-Methyltransferase Domain Containing Protein (LRTOMT)

A number sign is used with this entry because autosomal recessive deafness-63 (DFNB63) is caused by mutations in the LRTOMT gene.Tlili et al. (2006) reported a 6-generation consanguineous Tunisian family segregating autosomal recessive congenital hearing impairment. Audiometric testing of 7 affected individuals showed bilateral profound hearing impairment involving all frequencies, whereas 11 affected individuals had profound hearing loss affecting mainly mid to high frequencies. Khan et al. (2007) reported 4 consanguineous Pakistani families in which deafness was linked to 11q13.2-q13.3. All affected individuals displayed congenital bilateral profound hearing loss. Vestibular function appeared to be normal, and clinical evaluation suggested no skin or renal anomalies.