The goal of this project is to map and identify genes for syndromic and nonsyndromic forms of herditary deafness. Linkage analyses are being conducted using large pedigrees segregating non-syndromic or syndromic forms of deafness. If linkage to a known syndromic, DFNA (dominant) and DFNB (recessive) locus in large families is excluded, we initiate a genome-wide screen. During the past year this strategy has allowed us to map new deafness loci including DFNB63 and DFNB72, and to identify DFNB24 (RDX). The chromosomal map locations of novel deafness loci are refined prior to initiating positional cloning strategies to identify the genes responsible for the hearing loss. Additional families with dominant and recessive modes of inheritance with profound congenital or progressive hearing loss are being ascertained with the goal of mapping and cloning additional novel genes that are necessary for hearing and/or maintenace of the auditory system. We are also ascertaining families, mapping loci and identifying genes for Usher syndrome. The defining clinical features of Usher syndrome are hearing loss and progressive retinopathy. We are continuing to study the functions in the inner ear of cadherin 23 (USH1D) and protocadherin 15 (USH1F) and have demonstrated as a collaboration with Guy Richardson's group that a novel isoform of protocadherin 15 is a component of the hair cell tip-link transduction complex (Ahmed et al. 2006).
| Ahmed, Zubair M; Jaworek, Thomas J; Sarangdhar, Gowri N et al. (2018) Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment. J Med Genet 55:479-488 |
| Imtiaz, Ayesha; Belyantseva, Inna A; Beirl, Alisha J et al. (2018) CDC14A phosphatase is essential for hearing and male fertility in mouse and human. Hum Mol Genet 27:780-798 |
| Yousaf, Rizwan; Ahmed, Zubair M; Giese, Arnaud Pj et al. (2018) Modifier variant of METTL13 suppresses human GAB1-associated profound deafness. J Clin Invest 128:1509-1522 |
| Bird, Jonathan E; Barzik, Melanie; Drummond, Meghan C et al. (2017) Harnessing molecular motors for nanoscale pulldown in live cells. Mol Biol Cell 28:463-475 |
| Chattaraj, Parna; Munjal, Tina; Honda, Keiji et al. (2017) A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct. J Med Genet 54:665-673 |
| Naz, Sadaf; Imtiaz, Ayesha; Mujtaba, Ghulam et al. (2017) Genetic causes of moderate to severe hearing loss point to modifiers. Clin Genet 91:589-598 |
| Rehman, A U; Friedman, T B; Griffith, A J (2017) Unresolved questions regarding human hereditary deafness. Oral Dis 23:551-558 |
| Imtiaz, Ayesha; Maqsood, Azra; Rehman, Atteeq U et al. (2016) Recessive mutations of TMC1 associated with moderate to severe hearing loss. Neurogenetics 17:115-123 |
| Santos-Cortez, Regie Lyn P; Faridi, Rabia; Rehman, Atteeq U et al. (2016) Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2. Am J Hum Genet 98:331-8 |
| Brewer, Carmen C; Zalewski, Christopher K; King, Kelly A et al. (2016) Heritability of non-speech auditory processing skills. Eur J Hum Genet 24:1137-44 |
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