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

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

doi:10.1038/hgv.2017.12

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

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

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

Abstract

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.

Original language	English
Article number	17012
Journal	Human Genome Variation
Volume	4
DOIs	https://doi.org/10.1038/hgv.2017.12
Publication status	Published - 2017 Apr 13

ASJC Scopus subject areas

Biochemistry
Molecular Biology
Genetics

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abstract = "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.",

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AU - Takagi, Masaki

AU - Yagi, Hiroko

AU - Fukuzawa, Ryuji

AU - Narumi, Satoshi

AU - Hasegawa, Tomonobu

PY - 2017/4/13

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AB - 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.

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

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