Shprintzen-Goldberg syndrome with a novel missense mutation of SKI in a 6-month-old boy

• 발행기관: 대한의학유전학회
• 저자명: Min Jin Jeon Seul Gi Park Man Jin Kim Byung Chan Lim Ki Joong Kim Jong Hee Chae Soo Yeon Kim
• 간행물 정보: 『대한의학유전학회지』제17권 제1호, 43~46쪽, 전체 4쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2020.06.30

영문 초록

The Shprintzen-Goldberg syndrome (SGS) is an extremely rare genetic disorder caused by heterozygous variant in SKI. SGS is characterized by neurodevelopmental impairment with skeletal anomaly. Recognition of SGS is sometimes quite challeng-ing in practice because it has diverse clinical features involving skeletal, neurological, and cardiovascular system. Here we report a case of a 6-month-old boy who initially presented with developmental delay and marfanoid facial features including prominent forehead, hypertelorism, high arched palate and retrognathia. He showed motor developmental delay since birth and could not control his head at the time of ἀrst evaluation. His height was above 2 standard deviation score. Arachnodac-tyly, hypermobility of joints, skin laxity, and pectus excavatum were also noted. Sequencing for FBN1 was negative, however, a novel missense variant, c.350G>A in SKI was identiἀed by sequential whole exome sequencing. To our knowledge, this is the ἀrst case with SGS with phenotypic features of SGS overlapping with those of the Marfan syndrome, diagnosed by next generation sequencing in Korea.

목차

Introduction

Case

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키워드

Rare disease Marfan syndrome Neurodevelopmental disorder SKI