Novel Frameshift CHD7 Mutation Related to CHARGE Syndrome | Zendy

Efrén MartínezQuintana | Zendy; F. Rodríguez-González | Zendy; Paloma GaraySánchez | Zendy; Antonio Tugores | Zendy

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Novel Frameshift CHD7 Mutation Related to CHARGE Syndrome

Author(s) -

Efrén MartínezQuintana,

F. Rodríguez-González,

Paloma GaraySánchez,

Antonio Tugores

Publication year - 2013

Publication title -

molecular syndromology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.609

H-Index - 36

eISSN - 1661-8777

pISSN - 1661-8769

DOI - 10.1159/000355431

Subject(s) - charge syndrome , frameshift mutation , coloboma , chromodomain , choanal atresia , exon , genetics , mutation , allele , gene , biology , null allele , stop codon , haploinsufficiency , medicine , helicase , atresia , rna , phenotype

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.

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