Atypical CHARGE associated with a novel frameshift mutation of CHD7 in a Chinese neonatal patient.

ABSTRACT:

Background

CHARGE syndrome is an autosomal dominant malformation disorder caused by heterozygous loss of function mutations in the chromatin remodeler CHD7, which has been estimated to occur in 1:10,000 births worldwide. It is a genetic disorder closely resembles other pattern of anomalies. Genetic testing should be pointed out as a useful method for clinical diagnosis.

Case presentation

A female infant was the second child born to a 33-year-old, gravida 3, para 2 mother. The infant was born at 37 + 4 weeks of gestation with a birth weight of 2440 g (- 1.1 S.D.). Clinical examination showed atypical CHARGE syndrome, with choanal atresia, a heart defect, and sensorineural deafness. Genomic DNA was extracted from peripheral venous blood sample using molecular biological techni

SUBMITTER: Xu YP 

PROVIDER: S-EPMC6020284 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature