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Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79.

American journal of human genetics - 12 Mar 2010

Rehman Atteeq Ur, Morell Robert J, Belyantseva Inna A, Khan Shahid Y, Boger Erich T, Shahzad Mohsin, Ahmed Zubair M, Riazuddin Saima, Khan Shaheen N, Riazuddin Sheikh, Friedman Thomas B

Abstract excerpt

Targeted genome capture combined with next-generation sequencing was used to analyze 2.9 Mb of the DFNB79 interval on chromosome 9q34.3, which includes 108 candidate genes. Genomic DNA from an affected member of a consanguineous family segregating recessive, nonsyndromic hearing loss was used to make a library of fragments covering the DFNB79 linkage interval defined by genetic analyses of four pedigrees....

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Share to Chromosomes, Human, Pair 9
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 20170899
DOI: 10.1016/j.ajhg.2010.01.030
PMCID: PMC2833391

Genes

TPRN

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