Hyperornithinemia-hyperammonemia-homocitrullinuria 증후군을 유발하는 SLC25A15 유전자의 새로운 변이

• 영문명: A Novel SLC25A15 Mmutation Causing Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
• 발행기관: 대한소아신경학회
• 저자명: 장경미(Kyung Mi Jang) 현명철(Myung Chul Hyun) 황수경(Su-Kyeong Hwang)
• 간행물 정보: 『Annals of Child Neurology(구 대한소아신경학회지)』대한소아신경학회지 제25권 제3호, 204~207쪽, 전체 4쪽
• 주제분류: 의약학 > 소아과학
• 파일형태: PDF
• 발행일자: 2017.07.30

영문 초록

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) is a neurometabolic disorder with highly variable clinical severity ranging from mild learning disability to severe encephalopathy. Diagnosis of HHH syndrome can easily be delayed or misdiagnosed due to insidious symptoms and incomplete biochemical findings, in that case, genetic testing should be considered to confirm the diagnosis. HHH syndrome is caused by biallelic mutations of SLC25A15, which is involved in the urea cycle and the ornithine transport into mitochondria. Here we report a boy with spastic paraplegia and asymptomatic younger sister who have compound heterozygous mutations of c.535C>T (p.R179*) and c.116C>A (p.T39K) in the SLC25A15 gene. We identified that p.T39K mutation is a novel pathogenic mutation causing HHH syndrome and that p.R179*, which is prevalent in Japanese and Middle Eastern heritage, is also found in the Korean population.

키워드

HHH syndrome Urea cycle disorders SLC25A15 Genetics