Article
Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Apr 2020
Ramzan Khushnooda, Al-Owain Mohammed, Al-Numair Nouf S, Afzal Sibtain, Al-Ageel Sarah, Al-Amer Sultan, Al-Baik Lina, Al-Otaibi Ghoson F, Hashem Amal, Al-Mashharawi Eman, Basit Sulman, Al-Mazroea Abdal H, Softah Ameen, Sogaty Sameera, Imtiaz Faiqa
Abstract excerpt
Hearing loss (HL) is the most common sensory disorder worldwide and genetic factors contribute to approximately half of congenital HL cases. HL is subject to extensive genetic heterogeneity, rendering molecular diagnosis difficult. Mutations of the transmembrane channel-like 1 (TMC1) gene cause hearing defects in humans and mice. The precise function of TMC1 protein in the inner ear is unknown, although it is...
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