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Hypotonia, Ataxia, and Delayed Development Syndrome caused by the EBF3 mutation in a Korean boy with muscle hypotonia

Journal of Genetic Medicine 2020년 17권 2호 p.92 ~ 96
김태경, 최윤하, 이예나, 강민지, 서고훈, 이범희,
소속 상세정보
김태경 ( Kim Tae-Gyeong ) - University of Ulsan College of Medicine Asan Medical Center Department of Pediatrics
최윤하 ( Choi Yoon-Ha ) - University of Ulsan College of Medicine Asan Medical Center Department of Pediatrics
이예나 ( Lee Ye-Na ) - University of Ulsan College of Medicine Asan Medical Center Department of Pediatrics
강민지 ( Kang Min-Ji ) - University of Ulsan College of Medicine Asan Medical Center Genome Research Center for Birth Defects and Genetic Diseases
서고훈 ( Seo Go-Hun ) - 3 Billion Inc.
이범희 ( Lee Beom-Hee ) - University of Ulsan College of Medicine Asan Medical Center Department of Pediatrics

Abstract


Hypotonia, Ataxia, and Delayed Development Syndrome (HADDS) is an autosomal-dominant, extremely rare neurodevelopmental disorder caused by the heterozygous EBF3 gene mutation. EBF3 is located on chromosome 10q26.3 and acts as a transcription factor that regulates neurogenesis and differentiation. This syndrome is characterized by dysmorphism, cerebellar hypoplasia, urogenital anomaly, hypotonia, ataxia, intellectual deficit, and speech delay. The current report describes a 3-year-old Korean male carrying a de novo EBF3 mutation, c.589A>G (p.Asn197Asp), which was identified by whole exome sequencing. He manifested facial dysmorphism, hypotonia, strabismus, vermis hypoplasia, and urogenital anomalies, including vesicoureteral reflux, cryptorchidism, and areflexic bladder. This is the first report of a case of HADDS cause by an EBF3 mutation in the Korean population.

키워드

Hypotonia; Ataxia and Delayed Development Syndrome; EBF3; Muscle hypotonia; Developmental disabilities

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