Novel Autosomal Recessive Nonsyndromic Hearing Impairment Locus DFNB90 Maps to 7p22.1-p15.3 | Zendy

Ghazanfar Ali | Zendy; Kwanghyuk Lee | Zendy; Paula B. Andrade | Zendy; Sulman Basit | Zendy; Regie Lyn P. SantosCortez | Zendy; Leon Chen | Zendy; Musharraf Jelani | Zendy; Muhammad Ansar | Zendy; Wasim Ahmad | Zendy; Suzanne M. Leal | Zendy

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Novel Autosomal Recessive Nonsyndromic Hearing Impairment Locus DFNB90 Maps to 7p22.1-p15.3

Author(s) -

Ghazanfar Ali,

Kwanghyuk Lee,

Paula B. Andrade,

Sulman Basit,

Regie Lyn P. SantosCortez,

Leon Chen,

Musharraf Jelani,

Muhammad Ansar,

Wasim Ahmad,

Suzanne M. Leal

Publication year - 2011

Publication title -

human heredity

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.423

H-Index - 62

eISSN - 1423-0062

pISSN - 0001-5652

DOI - 10.1159/000320154

Subject(s) - locus (genetics) , genetics , lod score , biology , hearing loss , medicine , audiology , chromosome , gene mapping , gene

A novel locus DFNB90 was mapped to 7p22.1-p15.3 by carrying out a genome scan in a multigenerational consanguineous family from Pakistan with autosomal recessive nonsyndromic hearing impairment (ARNSHI).DFNB90 is the eighth ARNSHI locus mapped to chromosome 7. A multipoint LOD score of 4.0 was obtained at a number of SNP marker loci spanning from rs1468996 (chromosome 7: 5.7 Mb) tors957960 (chromosome 7: 18.8 Mb). The 3-unit support interval and the region of homozygosity for DFNB90 spans from markers rs1553960 (chromosome 7: 4.9 Mb) to rs206198 (chromosome 7: 20.3 Mb). Candidate genes ACTB, BZW, OCM, MACC1, NXPH1, PRPS1L1, RAC1 and RPA3, which lie within the DFNB90 region, were sequenced and no potentially causal variants were identified.

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