Linkage analyses are being conducted in several large pedigrees segregating dominant non-syndromic deafness. After excluding linkage to the known DFNA and DFNB loci in these large DFNA families, we have initiated genome-wide screens and have identified new DFN loci such as DFNA20, DFNA27, DFNA28 and DFNA236. The location of these three new DFNA genes is being refined prior to initiating positional cloning strategies to identify the genes responsible for the progressive hearing loss. Additional families with dominant, progressive hearing loss are being ascertained with the goal of mapping and cloning the responsible genes.
| 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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