一种新的无义和错义CEACAM16变体的特殊复合杂合基因型导致的非综合征性耳聋

Journal of Neurology Research Reviews & Reports Pub Date : 2023-07-31 DOI:10.47363/jnrrr/2023(5)180

Enrique Nogueira, Beatriz delOlmo

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引用次数: 0

摘要

报道了与非综合征性听力损失(NSHL)相关的CEACAM16基因的一种特殊的复合杂合基因型，是CEACAM16末端igv样结构域N2结构域的两个不同性质的新变体，无义p.Trp370Ter和错义p.Ala375Thr，它们可能通过破坏CEACAM16与其他主要糖蛋白(主要是TECTA和TECTB)的相互作用而具有致病性(听力损失)。引入Corti器官的覆盖膜(TM)的结构变化。

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Nonsyndromic Deafness Due to A Peculiar Compound Heterozygous Genotype of Novel Nonsense and Missense CEACAM16 Variants

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.

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Journal of Neurology Research Reviews & Reports

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