The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing

Choi, Eun Mi; Lee, Dong Hyun; Kang, Seok Jin; Shim, Ye Jee; Kim, Heung Sik; Kim, Joon Sik; Jeong, Jong In; Ha, Jung-Sook; Jang, Ja-Hyun

추천

검색

자료유형: 학술저널

저자정보: Choi, Eun Mi (Department of Pediatrics, Keimyung University Dongsan Medical Center, Keimyung University School of Medicine) Lee, Dong Hyun (Department of Pediatrics, Keimyung University Dongsan Medical Center, Keimyung University School of Medicine) Kang, Seok Jin (Department of Pediatrics, Keimyung University Dongsan Medical Center, Keimyung University School of Medicine) Shim, Ye Jee (Department of Pediatrics, Keimyung University Dongsan Medical Center, Keimyung University School of Medicine) Kim, Heung Sik (Department of Pediatrics, Keimyung University Dongsan Medical Center, Keimyung University School of Medicine) Kim, Joon Sik (Department of Pediatrics, Keimyung University Dongsan Medical Center, Keimyung University School of Medicine) Jeong, Jong In (Department of Otorhinolaryngology, Keimyung University Dongsan Medical Center, Keimyung University School of Medicine) Ha, Jung-Sook (Department of Laboratory Medicine, Keimyung University Dongsan Medical Center, Keimyung University School of Medicine) Jang, Ja-Hyun (Green Cross Genome)

저널정보: 대한소아청소년과학회 Clinical and Experimental Pediatrics Korean journal of pediatrics 제61권 제12호

발행연도: 2018.1

수록면: 403 - 406 (4page)

이용수

📌

연구주제

📖

연구배경

🔬

연구방법

🏆

연구결과

초록· 키워드

오류제보하기

Floating-Harbor syndrome is a rare autosomal dominant genetic disorder associated with SRCAP mutation. To date, approximately 50 cases of Floating-Harbor syndrome have been reported, but none have been reported in Korea yet. Floating-Harbor syndrome is characterized by delayed bony maturation, unique facial features, and language impairment. Here, we present a 6-year-old boy with a triangular face, deep-set protruding eyes, low-set ears, wide nose with narrow nasal bridge, short philtrum, long thin lips, clinodactyly, and developmental delay that was transferred to our pediatric clinic for genetic evaluation. He showed progressive delay in the area of language and cognition-adaption as he grew. He had previously undergone chromosomal analysis at another hospital due to his language delay, but his karyotype was normal. We performed targeted exome sequencing, considering several syndromes with similar phenotypes. Library preparation was performed with the TruSight One sequencing panel, which enriches the sample for about 4,800 genes of clinical relevance. Massively parallel sequencing was conducted with NextSeq. An identified variant was confirmed by Sanger sequencing of the patient and his parents. Finally, the patient was confirmed as the first Korean case of Floating-Harbor syndrome with a novel SRCAP (Snf2 related CREBBP activator protein) mutation (c.7732dupT, p.Ser2578Phefs*6), resulting in early termination of the protein; it was not found in either of his healthy parents or a control population. To our knowledge, this is the first study to describe a boy with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing in Korea.

#Floating-Harbor syndrome #Pelletier-Leisti syndrome #SRCAP gene #Next generation sequencing

참고문헌 (0)

참고문헌 신청

참고문헌이 DBpia에서 서비스 중이라면, [참고문헌 신청]을 통해 등록해보세요

함께 읽어보면 좋을 논문

논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!