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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.

SUBMITTER: Martinez-Quintana E

PROVIDER: S-EPMC3919485 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature

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Novel Frameshift CHD7 Mutation Related to CHARGE Syndrome.

Martínez-Quintana E E Rodríguez-González F F Garay-Sánchez P P Tugores A A

Molecular syndromology 20131004 1

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) resulti ...[more]

PMID: 24550764

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