CHARGE Probe LPU021 - Detail

CHARGE syndrome is an autosomal dominant disorder that occurs in 1/10, 000 births. The acronym CHARGE summarizes six main clinical features: ocular Coloboma, Heart defects of any type, Atresia of the choaneae, Retardation, Genital and Ear anomalies¹. The gene CHD7 was identified as causative for the syndrome in 2/3 of patients with a clinical diagnosis of CHARGE. CD7 is located in 8q12.1 and is 188 kb in size. Most mutations are truncating mutations, leading to haploinsufficiency and are mostly de novo. They are found in 53-65% of patients with the syndrome. Microdeletions are found in up to 10% of CHARGE patients ^2,3. The CDH7 protein plays role in chromatin organization and is a member of the chromodomain helicase DNA-binding (CDH) genes. The CDH7 has an important function in early embryonic development. It is ubiquitously expressed in several fetal and adult tissues, including those affected in CHARGE syndrome ².

Reference:/Bibliographie/Literatur/Bibliografia

1. Pagon RA et al (1981) J Pediat 99:223-227
2. Vissers LE et al (2004) Nat Genet 36:955-57
3. Jongmans M et al (2005) J Med Genet 14 [Epub]