Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.
Guney BademciJoseph FosterNejat MahdiehMortaza BonyadiDuygu DumanF Basak CengizIbis MenendezOscar Diaz-HortaAtefeh ShirkavandSirous ZeinaliAsli SubasiogluSuna Tokgoz-YilmazFabiola Huesca-HernandezMaria de la Luz Arenas-SordoJuan Dominguez-AburtoEdgar Hernandez-ZamoraPaola MontenegroRosario ParedesGermania MoretaRodrigo VinuezaFranklin VillegasSantiago Mendoza-BenitezShengru GuoNazim BozanTulay TosArmagan IncesuluGonca SennarogluSusan H BlantonHatice Ozturkmen-AkayMuzeyyen Yildirim-BaylanMustafa TekinPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2015)
We report on a large multiethnic cohort with ARNSD in which comprehensive analysis of all known ARNSD genes identifies causative DNA variants in 56% of the families. In the remaining families, WES allows us to search for causative variants in novel genes, thus improving our ability to explain the underlying etiology in more families.Genet Med 18 4, 364-371.