Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX.
Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX.
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DOI：
10.1038/hgv.2017.12
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发表时间：
2017
影响因子：
1.5
通讯作者：
Hasegawa T
中科院分区：
文献类型：
--
作者：
Takagi M;Yagi H;Fukuzawa R;Narumi S;Hasegawa T
α-地中海贫血/精神发育迟滞综合征X连锁(ATRX；OMIM#301040)是由ATRX基因突变引起的，以α-地中海贫血、明显的畸形相、精神运动发育迟缓和生殖器异常为特征。在这里，我们描述了一例新生儿性发育综合征，在ATRX的羧基末端区域含有一个新的半合子突变p.Asp2352fs*1。我们的研究提供了更多的证据表明ATRX的羧基末端缺失与严重的生殖器畸形有关。
Alpha-thalassemia/mental retardation syndrome X-linked (ATRX; OMIM #301040), which is caused by mutations in the ATRX 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 ATRX. Our study provides additional evidence that deletion of the carboxyl terminus of ATRX is associated with severe genital anomalies.