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 journalArticle

1 Citation (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 languageEnglish
Article number17012
JournalHuman Genome Variation
Volume4
DOIs
Publication statusPublished - 2017 Apr 13

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Molecular Biology

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