A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency

Masaki Takagi, Kazushige Dobashi, Keiko Nagahara, Mitsuhiro Kato, Gen Nishimura, Ryuji Fukuzawa, Satoshi Narumi, Tomonobu Hasegawa

研究成果: Article査読

4 被引用数 (Scopus)

抄録

Germline or somatic gain-of-function mutations in the v-akt murine thymoma viral oncogene homolog 3 (AKT3) have been reported to cause syndromic megalencephaly. We describe a novel germline mutation, p.Glu40Lys, in AKT3. Phenotypically, the patient presented with megalencephaly with hypotonia, apparent connective tissue laxity, and growth hormone (GH) deficiency. To our knowledge, this is the first instance of a patient with megalencephaly with GH deficiency, harboring a germline de novo mutation in AKT3.

本文言語English
ページ(範囲)1071-1076
ページ数6
ジャーナルAmerican Journal of Medical Genetics, Part A
173
4
DOI
出版ステータスPublished - 2017 4 1

ASJC Scopus subject areas

  • 遺伝学
  • 遺伝学(臨床)

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