Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.

doi:10.1016/j.ajhg.2015.12.004

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Article

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.

American journal of human genetics - 4 Feb 2016

Santos-Cortez Regie Lyn P, Faridi Rabia, Rehman Atteeq U, Lee Kwanghyuk, Ansar Muhammad, Wang Xin, Morell Robert J, Isaacson Rivka, Belyantseva Inna A, Dai Hang, Acharya Anushree, Qaiser Tanveer A, Muhammad Dost, Ali Rana Amjad, Shams Sulaiman, Hassan Muhammad Jawad, Shahzad Shaheen, Raza Syed Irfan, Bashir Zil-E-Huma, Smith Joshua D, Nickerson Deborah A, Bamshad Michael J, Riazuddin Sheikh, Ahmad Wasim, Friedman Thomas B, Leal Suzanne M

Abstract excerpt

The sphingosine-1-phosphate receptors (S1PRs) are a well-studied class of transmembrane G protein-coupled sphingolipid receptors that mediate multiple cellular processes. However, S1PRs have not been previously reported to be involved in the genetic etiology of human traits. S1PR2 lies within the autosomal-recessive nonsyndromic hearing impairment (ARNSHI) locus DFNB68 on 19p13.2. From exome sequence data we...

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PMID: 26805784
DOI: 10.1016/j.ajhg.2015.12.004
PMCID: PMC4746333

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