Work

CHD7 Mutations and CHARGE Syndrome in Semicircular Canal Dysplasia

Year: 2014

Type: article

Abstract: OBJECTIVE: To determine whether patients with semicircular canal dysplasia have mutations in CHD7. BACKGROUND: CHARGE syndrome is a nonrandom clustering of congenital anomalies, including ocular coloboma, heart defects, choanal atresia or stenosis, retarded growth and development, genital hypoplasia, and inner and outer ear anomalies including deafness. Semicircular canal dysplasia has been included as a major diagnostic criterion for CHARGE syndrome. Mutations in the gene CHD7 on chromosome 8q12.1 are a major cause of CHARGE syndrome, but the extent to which patients with semicircular canal dysplasia have CHD7 mutations is not fully understood. STUDY DESIGN: Cross-sectional analysis of CHD7 in 12 patients with semicircular canal dysplasia and variable clinical features of CHARGE syndrome. RESULTS: We identified 6 CHD7 mutations, 5 of which occurred in patients who fulfilled Verloes' diagnostic criteria for typical CHARGE syndrome, and three of which were previously unreported. Of the 3 remaining CHD7 mutation-positive patients, one had atypical CHARGE by diagnostic criteria. Four MRI records were available, which revealed 2 patients with cochlear nerve aplasia and 1 patient with Chiari 1 malformation. CONCLUSION: These data provide additional evidence that CHD7 mutations are a significant cause of semicircular canal atresia in children with full or partial CHARGE syndrome.

Source: Otology & Neurotology

DOI: 10.1097/mao.0000000000000260

Authors: Glenn E. Green, Farhan S. Huq, Sarah B. Emery, Suresh K. Mukherji, Donna M. Martin

Institutions: University of Michigan, Michigan Medicine

Language: English

Topic: Congenital Ear and Nasal Anomalies

Subfield: Genetics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funder: National Institute on Deafness and Other Communication Disorders