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由于[具体基因名称]羧基末端结构域中的一种新型半合子突变导致的性发育综合征性疾病 。 （原文中“of”后面缺少具体基因名称，以上是补充完整后的翻译，你可根据实际情况修改）

Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of .

作者信息

Takagi Masaki, Yagi Hiroko, Fukuzawa Ryuji, Narumi Satoshi, Hasegawa Tomonobu

机构信息

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

Department of Pathology and Laboratory Medicine, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

出版信息

Hum Genome Var. 2017 Apr 13;4:17012. doi: 10.1038/hgv.2017.12. eCollection 2017.

DOI:10.1038/hgv.2017.12
PMID:28446958
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5389957/
Abstract

Alpha-thalassemia/mental retardation syndrome X-linked (ATRX; OMIM #301040), which is caused by mutations in the gene, is characterized by alpha-thalassemia, distinct dysmorphic facies, psychomotor development delay and genital abnormalities. Here, we describe a neonatal case of syndromic disorder of sex development, harboring a novel hemizygous mutation, p.Asp2352fs*1 in the carboxyl-terminal domain of . Our study provides additional evidence that deletion of the carboxyl terminus of ATRX is associated with severe genital anomalies.

摘要

X连锁α地中海贫血/智力发育迟缓综合征（ATRX；OMIM编号#301040）由该基因的突变引起，其特征为α地中海贫血、独特的畸形面容、精神运动发育迟缓以及生殖器异常。在此，我们描述了一例患有性发育综合征的新生儿病例，该病例在该基因的羧基末端结构域存在一种新的半合子突变，即p.Asp2352fs*1。我们的研究提供了额外证据，表明ATRX羧基末端的缺失与严重的生殖器异常有关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7745/5389957/6079497cffab/hgv201712-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7745/5389957/685b5930c743/hgv201712-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7745/5389957/6079497cffab/hgv201712-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7745/5389957/685b5930c743/hgv201712-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7745/5389957/6079497cffab/hgv201712-f2.jpg

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