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KMID : 1189120200170020092
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대한의학유전학회지
2020 Volume.17 No. 2 p.92 ~ p.96
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Hypotonia, Ataxia, and Delayed Development Syndrome caused by the EBF3 mutation in a Korean boy with muscle hypotonia
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Kim Tae-Gyeong
Choi Yoon-Ha
Lee Ye-Na
Kang Min-Ji
Seo Go-Hun
Lee Beom-Hee
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Abstract
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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.
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KEYWORD
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Hypotonia, Ataxia and Delayed Development Syndrome, EBF3, Muscle hypotonia, Developmental disabilities
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