생식샘저하증과 비정상적인 후각망울을 보이는 CHD7 돌연변이를 동반한 CHARGE 증후군 1례
Hypogonadotropic Hypogonadism and Abnormal Olfactory Bulb Development inCHARGE Syndrome with CHD7 Mutation
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초록
CHARGE 증후군은 안구의 결손, 심장결함, 후비공폐쇄증, 성장과 발달의 지연, 생식기관의 저형성, 귀의 기형을 임상적 특징으로 하는 선천 기형 질환이다. 약 60%에서 CHD7 유전자의 돌연변이가 발견되었고 최근에는 CHARGE 증후군을 진단하기 위한 여러 가지 진단기준이 제시되고 있다. 저자들은 사춘기 발달 지연과 성장 장애를 주소로 내원한 13세 된 여자 환아에서 저생식샘자극호르몬 생식샘저하증과 후각망울 발달이상을 발견하였고 양쪽 시신경결손, 귀의 기형, 양쪽 반고리뼈관의 저형성을 관찰하여 CHARGE 증후군으로 진단하였다. 환아는 중증의 정신발육지연이 있었고 자폐적 행동을 동반하였다. 환아의 CHD7 유전자 20번째 엑손에서 새로운 이형접합체 무의미돌연변이(c.4601G>A; Trp1534X)가 있음을 확인하여 증례를 보고하는 바이다.
Abstract
CHARGE syndrome is a congenital malformation disorder that includes Coloboma, Heart defect, Atresia of the choanae, Retarded growth and development, Genital hypoplasia, and Ear abnormalities. Recently hypogonadotropic hypogonadism and abnormal olfactory bulb development are occasionally described in CHARGE syndrome with chromodomain helicase DNA-binding protein 7 (CHD7) gene mutation. We report the case of Korean female patient with CHARGE syndrome and CHD7 mutation who had hypogonadotropic hypogonadism and abnormal olfactory bulb as manifested by delayed puberty and growth retardation at 13 years of age. She had both optic nerve coloboma, external ear abnormalities and bilateral agenesis of the semicircular canals. She had severe mental retardation and autistic-like behavior. We identified a heterozygous nonsense mutation at exon 20 of the CHD7 gene (c.4601G>A; Trp1534X).
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