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

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

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.

Original languageEnglish
JournalAmerican Journal of Medical Genetics, Part A
DOIs
Publication statusAccepted/In press - 2017

Fingerprint

Megalencephaly
Germ-Line Mutation
Growth Hormone
Mutation
Muscle Hypotonia
Thymoma
Oncogenes
Connective Tissue

Keywords

  • AKT3
  • Growth hormone deficiency
  • Megalencephaly

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency. / Takagi, Masaki; Dobashi, Kazushige; Nagahara, Keiko; Kato, Mitsuhiro; Nishimura, Gen; Fukuzawa, Ryuji; Narumi, Satoshi; Hasegawa, Tomonobu.

In: American Journal of Medical Genetics, Part A, 2017.

Research output: Contribution to journalArticle

Takagi, Masaki ; Dobashi, Kazushige ; Nagahara, Keiko ; Kato, Mitsuhiro ; Nishimura, Gen ; Fukuzawa, Ryuji ; Narumi, Satoshi ; Hasegawa, Tomonobu. / A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency. In: American Journal of Medical Genetics, Part A. 2017.
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AU - Nishimura, Gen

AU - Fukuzawa, Ryuji

AU - Narumi, Satoshi

AU - Hasegawa, Tomonobu

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