Nonsyndromic Deafness Due to A Peculiar Compound Heterozygous Genotype of Novel Nonsense and Missense CEACAM16 Variants
Author(s):
Enrique Nogueira1,2*, Beatriz delOlmo2, Concepción Lobo2, Génesis Vizuete2
and Carmen Garma3
A peculiar compound heterozygous genotype of gene CEACAM16 associated to non-syndromic hearing loss (NSHL) is reported, of two novel variants of terminal IgV-like domain N2 domain of CEACAM16, different in nature, nonsense p.Trp370Ter and missense p.Ala375Thr, that would have a pathogenic effect (hearing loss) by impairing the interaction of CEACAM16 with other prominent glycoproteins, mainly with TECTA and TECTB, introducing structural changes in the tectorial membrane (TM) of the organ of Corti.
