Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

doi:10.1016/j.ajhg.2013.12.004

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Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

American journal of human genetics - 2 Jan 2014

Rehman Atteeq U, Santos-Cortez Regie Lyn P, Morell Robert J, Drummond Meghan C, Ito Taku, Lee Kwanghyuk, Khan Asma A, Basra Muhammad Asim R, Wasif Naveed, Ayub Muhammad, Ali Rana A, Raza Syed I, Nickerson Deborah A, Shendure Jay, Bamshad Michael, Riazuddin Saima, Billington Neil, Khan Shaheen N, Friedman Penelope L, Griffith Andrew J, Ahmad Wasim, Riazuddin Sheikh, Leal Suzanne M, Friedman Thomas B

Abstract excerpt

Inherited deafness is clinically and genetically heterogeneous. We recently mapped DFNB86, a locus associated with nonsyndromic deafness, to chromosome 16p. In this study, whole-exome sequencing was performed with genomic DNA from affected individuals from three large consanguineous families in which markers linked to DFNB86 segregate with profound deafness. Analyses of these data revealed homozygous mutation...

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PMID: 24387994
DOI: 10.1016/j.ajhg.2013.12.004
PMCID: PMC3882911

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