CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.

ABSTRACT:

Background

CHARGE syndrome is a non-random clustering of congenital anomalies including coloboma, heart defects, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies, and deafness. A consistent feature in CHARGE syndrome is semicircular canal hypoplasia resulting in vestibular areflexia. Other commonly associated congenital anomalies are facial nerve palsy, cleft lip/palate, and tracheo-oesophageal fistula. Specific behavioural problems, including autistic-like behaviour, have been described. The CHD7 gene on chromosome 8q12.1 was recently discovered as a major gene involved in the aetiology of this syndrome.

Methods

The coding regions of CHD7 were screened for mutations in 107 index patients with clinical features suggestive of CHARGE syndrome

SUBMITTER: Jongmans MC 

PROVIDER: S-EPMC2563221 | biostudies-literature | 2006 Apr

REPOSITORIES: biostudies-literature