title: The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.
abstract: We ascertained three consanguineous Pakistani families (PKDF291, PKDF335 and PKDF793) segregating nonsyndromic recessive hearing loss. The hearing loss segregating in PKDF335 and PKDF793 is moderate to severe, whereas it is profound in PKDF291. The maximum two-point LOD scores are 3.01 (D19S1034), 3.85 (D19S894) and 3.71 (D19S894) for PKDF291, PKDF335 and PKDF793, respectively. Haplotype analyses of the three families define a 1.16 Mb region of overlap of the homozygous linkage intervals bounded by markers D19S216 (20.01 cM) and D19S1034 (20.75 cM). These results define a novel locus, DFNB72, on chromosome 19p13.3. There are at least 22 genes in the 1.16 Mb interval, including PTPRS, ZNRF4 and CAPS. We identified no pathogenic variants in the exons and flanking intronic sequences of these three genes in affected members of the DFNB72 families. DFNB72 is telomeric to DFNB68, the only other known deafness locus with statistically significant support for linkage to chromosome 19p.
authors: National Centre of Excellence in Molecular Biology, University of the Punjab, 87-West Canal Bank Road, Thokar Niaz Baig, Lahore, 53700, Pakistan.
authors: Quratul
authors: Q
authors: Ain
authors: Sabiha
authors: S
authors: Nazli
authors: Saima
authors: S
authors: Riazuddin
authors: Ateeq-ul
authors: AU
authors: Jaleel
authors: S Amer
authors: SA
authors: Riazuddin
authors: Ahmad U
authors: AU
authors: Zafar
authors: Shaheen N
authors: SN
authors: Khan
authors: Tayyab
authors: T
authors: Husnain
authors: Andrew J
authors: AJ
authors: Griffith
authors: Zubair M
authors: ZM
authors: Ahmed
authors: Thomas B
authors: TB
authors: Friedman
authors: Sheikh
authors: S
authors: Riazuddin
mesh_terms: D001301:Audiometry, Pure-Tone; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D003241:Consanguinity; D003638:Deafness / Q000235:genetics* / Q000503:physiopathology; D005091:Exons; D005260:Female; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D007438:Introns; D008126:Lod Score; D008297:Male; D010154:Pakistan; D010375:Pedigree
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