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

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

Authors

Masaki Takagi^{1

2}, Hiroko Yagi³, Ryuji Fukuzawa², Satoshi Narumi^{1

4}, Tomonobu Hasegawa¹

Affiliations

¹ Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
² Department of Pathology and Laboratory Medicine, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
³ Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
⁴ Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

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.