A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3.
Hereditary hearing impairment (HI) displays extensive genetic heterogeneity. Autosomal recessive (AR) forms of prelingual HI account for approximately 75% of cases with a genetic etiology. A novel AR non-syndromic HI locus (DFNB47) was mapped to chromosome 2p25.1-p24.3, in two distantly related Pakistani kindreds. Genome scan and fine mapping were carried out using microsatellite markers. Multipoint linkage analysis resulted in a maximum LOD score of 4.7 at markers D2S1400 and D2S262. The three-unit support interval was bounded by D2S330 and D2S131. The region of homozygosity was found within the three-unit support interval and flanked by markers D2S2952 and D2S131, which corresponds to 13.2 cM according to the Rutgers combined linkage-physical map. This region contains 5.3 Mb according to the sequence-based physical map. Three candidate genes, KCNF1, ID2 and ATP6V1C2 were sequenced, and were found to be negative for functional sequence variants.
Hassan
Muhammad Jawad
MJ
Department of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan.
Santos
Regie Lyn P
RL
Rafiq
Muhammad Arshad
MA
Chahrour
Maria H
MH
Pham
Thanh L
TL
Wajid
Muhammad
M
Hijab
Nadine
N
Wambangco
Michael
M
Lee
Kwanghyuk
K
Ansar
Muhammad
M
Yan
Kai
K
Ahmad
Wasim
W
Leal
Suzanne M
SM
D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D005260:Female; D005808:Genes, Recessive; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree