通过靶向外显子组测序诊断出具有新型SRCAP突变的浮港综合征的第一例韩国病例。

Korean Journal of Pediatrics Pub Date : 2018-12-01 Epub Date: 2018-09-16 DOI:10.3345/kjp.2018.06289
Eun Mi Choi, Dong Hyun Lee, Seok Jin Kang, Ye Jee Shim, Heung Sik Kim, Jun Sik Kim, Jong In Jeong, Jung-Sook Ha, Ja-Hyun Jang
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引用次数: 4

摘要

浮港综合征是一种罕见的常染色体显性遗传病,与SRCAP突变有关。到目前为止,已报告了大约50例浮港综合征,但在韩国还没有报告。浮港综合征的特点是骨骼成熟延迟,独特的面部特征和语言障碍。在这里,我们报告了一个6岁的男孩,他有一个三角形的脸,深陷突出的眼睛,低垂的耳朵,宽鼻梁窄鼻梁,中短,长而薄的嘴唇,斜指,发育迟缓,被转移到我们的儿科诊所进行遗传评估。随着他的成长,他在语言和认知适应方面表现出渐进式的延迟。由于语言障碍,他之前在另一家医院进行了染色体分析,但他的核型正常。考虑到几种具有相似表型的综合征,我们进行了靶向外显子组测序。使用TruSight One测序板进行文库制备,该测序板丰富了样品中约4,800个临床相关基因。使用NextSeq进行大规模平行测序。通过对患者及其父母进行桑格测序,确认了一种已识别的变异。最后,该患者被确认为韩国首例漂浮港综合征患者,其携带一种新的SRCAP (Snf2相关CREBBP激活蛋白)突变(c.7732dupT, p.Ser2578Phefs*6),导致该蛋白的早期终止;在他的健康父母或对照人群中均未发现。据我们所知,这是韩国第一个通过靶向外显子组测序诊断出具有新型SRCAP突变的Floating-Harbor综合征男孩的研究。
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The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing.

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.

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期刊介绍: Korean J Pediatr covers clinical and research works relevant to all aspects of child healthcare. The journal aims to serve pediatricians through the prompt publication of significant advances in any field of pediatrics and to rapidly disseminate recently updated knowledge to the public. Additionally, it will initiate dynamic, international, academic discussions concerning the major topics related to pediatrics. Manuscripts are categorized as review articles, original articles, and case reports. Areas of specific interest include: Growth and development, Neonatology, Pediatric neurology, Pediatric nephrology, Pediatric endocrinology, Pediatric cardiology, Pediatric allergy, Pediatric pulmonology, Pediatric infectious diseases, Pediatric immunology, Pediatric hemato-oncology, Pediatric gastroenterology, Nutrition, Human genetics, Metabolic diseases, Adolescence medicine, General pediatrics.
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