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

Journal of Medical Genetics
M C J JongmansC M A van Ravenswaaij


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. The coding regions of CHD7 were screened for mutations in 107 index patients with clinical features suggestive of CHARGE syndrome. Clinical data of the mutation positive patients were sampled to study the phenotypic spectrum of mutations in the CHD7 gene. Mutations were identified in 69 patients. Here we describe the clinical features of 47 of these patients, including two sib pairs. Most mutations were unique and were scattered throughout the gene. All patients but one fulfilled the current diagnostic criteria for CHARGE syndrome. No genotype-phenotype correlations were apparent in this cohort, which i...Continue Reading


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Related Concepts

CHD7 protein, human
Spinal Diseases
Autoimmune Lymphoproliferative Syndrome
Specimen Type - Genital
Congenital Neurologic Anomalies
Genetic Screening Method
Congenital Ear Anomaly NOS (Disorder)
Fetal Growth Retardation
Entire Semicircular Canal

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