Regie Lyn P. Santos-Cortez, Rabia Faridi, Atteeq U

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Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2 Regie Lyn P. Santos-Cortez, Rabia Faridi, Atteeq U. Rehman, Kwanghyuk Lee, Muhammad Ansar, Xin Wang, Robert J. Morell, Rivka Isaacson, Inna A. Belyantseva, Hang Dai, Anushree Acharya, Tanveer A. Qaiser, Dost Muhammad, Rana Amjad Ali, Sulaiman Shams, Muhammad Jawad Hassan, Shaheen Shahzad, Syed Irfan Raza, Zil-e-Huma Bashir, Joshua D. Smith, Deborah A. Nickerson, Michael J. Bamshad, Sheikh Riazuddin, Wasim Ahmad, Thomas B. Friedman, Suzanne M. Leal The American Journal of Human Genetics Volume 98, Issue 2, Pages 331-338 (February 2016) DOI: 10.1016/j.ajhg.2015.12.004 Copyright © 2016 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigree Drawings, Mutation Information, and Audiograms for Families with S1PR2 Variants (A) Family DEM4154 with the c.323G>C (p.Arg108Pro) variant. Individuals whose DNA samples were submitted for exome sequencing are marked with asterisks. The mapped interval from linkage analysis and homozygosity mapping lies between D19S1034 and D19S433 (6.11–30.42 Mb). Note that a ZNF91 variant (23.56 Mb) does not segregate with hearing impairment, therefore reducing the mapped interval to 17.45 Mb. (B) Air-conduction audiograms for individuals V-4 of family DEM4154 (solid lines) and IV-1 and IV-3 of family PKDF1400 (arrows denote residual hearing). Red circles, right ear; blue crosses, left ear. Age (years) at audiometry: 4154 V-4, 20; PKDF1400 IV-1, 19; PKDF1400 IV-3, 12. All three individuals have congenital, profound hearing loss across all frequencies. (C) Chromatograms comparing an HI individual who is homozygous for each S1PR2 variant, a heterozygous carrier, and a hearing individual. (D) Family PKDF1400 with the c.419A>G (p.Tyr140Cys) variant and STR haplotype segregating with hearing impairment. The mapped interval from linkage analysis and homozygosity mapping lies between D19S884 and D19S885 (8.15–16.21 Mb), so the length of the mapped interval is 8.06 Mb. The American Journal of Human Genetics 2016 98, 331-338DOI: (10.1016/j.ajhg.2015.12.004) Copyright © 2016 The American Society of Human Genetics Terms and Conditions