DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1

Abstract

Nonsyndromic deafness locus (DFNB48) segregating as an autosomal recessive trait has been mapped to the long arm of chromosome 15 in bands q23-q25.1 in five large Pakistani families. The deafness phenotype in one of these five families (PKDF245) is linked to D15S1005 with a lod score of 8.6 at theta=0, and there is a critical linkage interval of approximately 7 cM on the Marshfield human genetic map, bounded by microsatellite markers D15S216 (70.73 cM) and D15S1041 (77.69 cM). MYO9A, NR2E3, BBS4, and TMC3 are among the candidate genes in the DFNB48 region. The identification of another novel nonsyndromic recessive deafness locus demonstrates the high degree of locus heterogeneity for hearing impairment, particularly in the Pakistani population.

Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells

“…Besides that, vestibular dysfunction, later confirmed by ENG, was suspected as there was a delayed onset of ambulation. 35 The DFNB48 phenotype found in three of the four families reported in the present study is consistent with the previously described DFNB48 phenotype, 4,36 severe to profound, prelingual bilateral HI without signs of retinitis pigmentosa and vestibular dysfunction. However, the HI in family W09-1575 with the recurrent homozygous variant, is less severe.…”

USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22‐23

“…The USH1H critical interval overlaps DFNB48 , a locus for non‐syndromic recessively inherited hearing loss that we previously mapped between markers D15S216 and D15S1041 (23). We next considered the possibility that mutations of a single gene might underlie both USH1H and DFNB48.…”

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

“…Funduscopic and electroretinographic examinations were performed on 14 affected individuals from DFNB48 families and two affected individuals from the USH1J family (PKDF117) by an ophthalmologist to detect the absence or presence of frank retinopathy. 1,2 Peripheral blood samples or buccal swabs for genomic DNA extraction were collected from participating subjects.…”