DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2

被引:0
作者
Sulman Basit
Kwanghyuk Lee
Rabia Habib
Leon Chen
Regie Lyn P. Umm-e-Kalsoom
Zahid Santos-Cortez
Paula Azeem
Muhammad Andrade
Wasim Ansar
Suzanne M. Ahmad
机构
[1] Quaid-I-Azam University,Department of Biochemistry, Faculty of Biological Sciences
[2] Baylor College of Medicine,Department of Molecular and Human Genetics
来源
Human Genetics | 2011年 / 129卷
关键词
Hearing Impairment; Otosclerosis; Autosomal Recessive; Usher Syndrome; Multipoint Linkage Analysis;
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摘要
DFNB89 is a novel autosomal recessive nonsyndromic hearing impairment (ARNSHI) locus that was mapped to 16q21-q23.2. Linkage to the region was established by carrying out genome-wide linkage scans in two unrelated, consanguineous Pakistani families segregating ARNSHI. The maximum multipoint LOD score is 9.7 for both families and for each family, a significant maximum LOD score of 6.0 and 3.7 were obtained. The 3-unit support interval and the region of homozygosity for the two families extend from rs717293 (chr16: 62.1 Mb) to rs728929 (chr16: 78.2 Mb) and contain 16.1 Mb of sequence. A total of 146 genes are within the DFNB89 interval. Eight candidate genes, CALB2, CDH1, CDH3, CDH11, HAS3, NOB1, PLEKHG4 and SMPD3, were sequenced, but no potentially causal variants were discovered. DFNB89 is the second ARNSHI locus mapped to chromosome 16.
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页码:379 / 385
页数:6
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[1]  
Abe S(2003)Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cdna microarray analysis of human cochlear and vestibular tissues Am J Hum Genet 72 73-82
[2]  
Katagiri T(2002)Merlin–rapid analysis of dense genetic maps using sparse gene flow trees Nat Genet 30 97-101
[3]  
Saito-Hisaminato A(2003)Pcdh15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both ush1f and dfnb23 Hum Mol Genet 12 3215-3223
[4]  
Usami S(2005)A deletion in the gene encoding sphingomyelin phosphodiesterase 3 (smpd3) results in osteogenesis and dentinogenesis imperfecta in the mouse Nat Genet 37 803-805
[5]  
Inoue Y(2001)Usher syndrome 1d and nonsyndromic autosomal recessive deafness dfnb12 are caused by allelic mutations of the novel cadherin-like gene cdh23 Am J Hum Genet 68 26-37
[6]  
Tsunoda T(2006)Chromosomal mapping and phenotypic characterization of hereditary otosclerosis linked to the otsc4 locus Arch Otolaryngol Head Neck Surg 132 416-424
[7]  
Nakamura Y(2009)Cadherin-11 controls otolith assembly: evidence for extracellular cadherin activity Dev Dyn 238 1909-1922
[8]  
Abecasis GR(2001)An original inner ear neuroepithelial degeneration in a deaf Rottweiler puppy Hear Res 161 65-71
[9]  
Cherny SS(1993)Faster sequential genetic linkage computations Am J Hum Genet 53 252-263
[10]  
Cookson WO(1991)Identification and ultrastructural localization of a calretinin-like calcium-binding protein (protein 10) in the guinea pig and rat inner ear Brain Res 560 139-148