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[CHARGE syndrome].

Carlos Javier Lobete Prieto, Isabel Rivas, Joaquín Fernández Toral, Pilar Madero Barrajón

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Abstract

The characteristic phenotype of CHARGE syndrome includes: coloboma, congenital heart defect, choanal atresia, retarded growth and development, genital abnormalities, ear anomalies with or without hearing loss, which give the name (an acronym) to this condition. The molecular cause in 60% of the cases are mutations in the chromodomain helicase DNAbinding protein gene (CHD7), with an estimated frequency of 1 in 10,000 live born infants. We describe 3, not related patients with a clinical diagnosis of CHARGE syndrome and each of them with a different mutation in the CHD7 gene sequence.

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What this paper is about

The characteristic phenotype of CHARGE syndrome includes: coloboma, congenital heart defect, choanal atresia, retarded growth and development, genital abnormalities, ear anomalies with or without hearing loss, which give the name (an acronym) to this condition. The molecular cause in 60% of the cases are mutations in the chromodomain helicase DNAbinding protein gene (CHD7), with an estimated frequency of 1 in 10,000 live born infants. We describe 3, not related patients with a clinical diagnosis of CHARGE syndrome and each of them with a different mutation in the CHD7 gene sequence.

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Available abstract

The characteristic phenotype of CHARGE syndrome includes: coloboma, congenital heart defect, choanal atresia, retarded growth and development, genital abnormalities, ear anomalies with or without hearing loss, which give the name (an acronym) to this condition. The molecular cause in 60% of the cases are mutations in the chromodomain helicase DNAbinding protein gene (CHD7), with an estimated frequency of 1 in 10,000 live born infants. We describe 3, not related patients with a clinical diagnosis of CHARGE syndrome and each of them with a different mutation in the CHD7 gene sequence.

Key concepts: CHARGE syndrome, Choanal atresia, Coloboma, Chromodomain, Hearing loss, Phenotype, Phenocopy, Genetics

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