Novel Frameshift CHD7 Mutation Related to CHARGE Syndrome.

Abstract

CHARGE syndrome is a rare congenital condition characterized by 6 cardinal features: coloboma, heart defect, atresia choanae, retarded growth and development, genital anomalies, and ear anomalies/deafness. Mutations of the chromodomain helicase DNA-binding protein gene CHD7 are reported to be a major cause of CHARGE syndrome. Herein, we report the case of a 27-year-old patient presenting with typical symptoms who bears a novel heterozygous insertion in exon 2 of the CHD7 gene (c.327dupC) resulting in an amino acid substitution and a frameshift (p.Val110Argfs*22) that leads to a 131-amino-acid truncated polypeptide, likely representing a null allele. Parental genetic screening confirmed the sporadic origin of the mutation.

• Authors: E Martínez-Quintana, F Rodríguez-González, P Garay-Sánchez, A Tugores
• Journal: Molecular syndromology (Mol Syndromol) Vol. 5 Issue 1 Pg. 36-40 (Jan 2014) ISSN: 1661-8769 [Print] Switzerland
• PMID: 24550764 (Publication Type: Case Reports)