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

研究成果: Article査読

3 被引用数 (Scopus)

抄録

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.

本文言語English
論文番号17012
ジャーナルHuman Genome Variation
4
DOI
出版ステータスPublished - 2017 4月 13

ASJC Scopus subject areas

  • 生化学
  • 分子生物学
  • 遺伝学

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