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Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.

Clinical genetics - 1 Aug 2007

Delahaye A, Sznajer Y, Lyonnet S, Elmaleh-Bergès M, Delpierre I, Audollent S, Wiener-Vacher S, Mansbach A-L, Amiel J, Baumann C, Bremond-Gignac D, Attié-Bitach T, Verloes A, Sanlaville D

Abstract excerpt

CHARGE syndrome (OMIM #214800) is a multiple malformation syndrome with distinctive diagnostic criteria, usually because of CHD7 (chromodomain helicase DNA binding 7) haploinsufficiency. Familial occurrence of CHARGE syndrome is rare. We report six patients from two Caucasian families (both with one parent and two children) affected by mild to severe CHARGE syndrome. Direct sequencing of the CHD7 gene was...

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Abnormalities, Multiple
Coloboma
Deafness
DNA Helicases
Family

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Heart Defects, Congenital

Mutation, Missense

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PMID: 17661815
DOI: 10.1111/j.1399-0004.2007.00821.x

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CHD7

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Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.PMID 17661815Read ↗

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Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.Semantic proximity Read ↗

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.Semantic proximity Read ↗

Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.Semantic proximity Read ↗

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CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome.Semantic proximity Read ↗

CHARGE syndrome: an update.Semantic proximity Read ↗

CHARGE: an association or a syndrome?Semantic proximity Read ↗

8q12.1q12.3 de novo microdeletion involving the CHD7 gene in a patient without the major features of CHARGE syndrome: case report and critical review of the literature.Semantic proximity Read ↗

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology.Semantic proximity Read ↗

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.Semantic proximity Read ↗

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