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Article

Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome.

Gene - 1 Feb 2016

Lee Byeonghyeon, Duz Mehmet Bugrahan, Sagong Borum, Koparir Asuman, Lee Kyu-Yup, Choi Jae Young, Seven Mehmet, Yuksel Adnan, Kim Un-Kyung, Ozen Mustafa

Abstract excerpt

Most cases of CHARGE syndrome are sporadic and autosomal dominant. CHD7 is a major causative gene of CHARGE syndrome. In this study, we screened CHD7 in two Turkish patients demonstrating symptoms of CHARGE syndrome such as coloboma, heart defect, choanal atresia, retarded growth, genital abnomalities and ear anomalies. Two mutations of CHD7 were identified including a novel splice-site mutation (c.2443-2A>G) and...

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Source

Identifiers

PMID: 26551301
DOI: 10.1016/j.gene.2015.11.006

Genes

CHD7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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