title: 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.affiliation: Cardiology Service, Insular-Materno Infantil University Hospital, Las Palmas de Gran Canaria, Spain.
authors.forename: E
authors.initials: E
authors.lastname: Martínez-Quintana
authors.affiliation: Ophtalmology Service, Dr. Negrín University Hospital of Gran Canaria, Las Palmas de Gran Canaria, Spain.
authors.forename: F
authors.initials: F
authors.lastname: Rodríguez-González
authors.affiliation: Research Unit, Insular-Materno Infantil University Hospital, Las Palmas de Gran Canaria, Spain.
authors.forename: P
authors.initials: P
authors.lastname: Garay-Sánchez
authors.affiliation: Research Unit, Insular-Materno Infantil University Hospital, Las Palmas de Gran Canaria, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Tugores
keywords: Abnormalities; CHARGE syndrome; CHD7 gene; Frameshift; Heart; Mutation