A Korean boy with a CHD8 mutation who presented with overgrowth, intellectual disability, and autism.

IF 2.8 Q3 ENDOCRINOLOGY & METABOLISM

Annals of Pediatric Endocrinology & Metabolism Pub Date : 2023-12-01 Epub Date: 2023-02-01 DOI:10.6065/apem.2244130.065

Chiwoo Kim, Eu-Seon Noh, Sung Yoon Cho

引用次数: 0

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一名患有 CHD8 基因突变的韩国男孩，表现为发育过度、智力障碍和自闭症。

CHD8突变最初被确定为自闭症谱系障碍(ASD)的原因，之前在人类在线孟德尔遗传(OMIM)上被标记为自闭症，易感性，18 [MIM 615032]。由于许多CHD8突变患者在自闭症的同时还表现出其他特征，该表型于2022年5月被重新标记为自闭症和大头畸形智力发育障碍(IDDAM)。我们报告了一个3岁10个月大的男孩，他表现出过度生长，智力障碍，面部特征畸形和ASD。靶向外显子组测序发现CHD8存在杂合无义突变c.2854C>T (p.a g952ter)，诊断为IDDAM。面部畸形和/或发育迟缓的过度生长患者应调查遗传原因。据报道，在被诊断为智力残疾的过度生长的患者中，约有50%的人患有这种疾病。我们的病例提示，如果过度生长、智力残疾和ASD共存，应该包括CHD8基因检测。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Annals of Pediatric Endocrinology & Metabolism Multiple-

CiteScore

4.00

自引率

18.20%

发文量

审稿时长

24 weeks

期刊介绍： The Annals of Pediatric Endocrinology & Metabolism Journal is the official publication of the Korean Society of Pediatric Endocrinology. Its formal abbreviated title is “Ann Pediatr Endocrinol Metab”. It is a peer-reviewed open access journal of medicine published in English. The journal was launched in 1996 under the title of ‘Journal of Korean Society of Pediatric Endocrinology’ until 2011 (pISSN 1226-2242). Since 2012, the title is now changed to ‘Annals of Pediatric Endocrinology & Metabolism’. The Journal is published four times per year on the last day of March, June, September, and December. It is widely distributed for free to members of the Korean Society of Pediatric Endocrinology, medical schools, libraries, and academic institutions. The journal is indexed/tracked/covered by web sites of PubMed Central, PubMed, Emerging Sources Citation Index (ESCI), Scopus, EBSCO, EMBASE, KoreaMed, KoMCI, KCI, Science Central, DOI/CrossRef, Directory of Open Access Journals(DOAJ), and Google Scholar. The aims of Annals of Pediatric Endocrinology & Metabolism are to contribute to the advancements in the fields of pediatric endocrinology & metabolism through the scientific reviews and interchange of all of pediatric endocrinology and metabolism. It aims to reflect the latest clinical, translational, and basic research trends from worldwide valuable achievements. In addition, genome research, epidemiology, public education and clinical practice guidelines in each country are welcomed for publication. The Journal particularly focuses on research conducted with Asian-Pacific children whose genetic and environmental backgrounds are different from those of the Western. Area of specific interest include the following : Growth, puberty, glucose metabolism including diabetes mellitus, obesity, nutrition, disorders of sexual development, pituitary, thyroid, parathyroid, adrenal cortex, bone or other endocrine and metabolic disorders from infancy through adolescence.