A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency. Issue 4 (12th February 2017)

• Record Type: Journal Article
• Authors: Takagi, Masaki; Dobashi, Kazushige; Nagahara, Keiko; Kato, Mitsuhiro; Nishimura, Gen; Fukuzawa, Ryuji; Narumi, Satoshi; Hasegawa, Tomonobu
• Is Part Of: American journal of medical genetics. Volume 173:Issue 4(2017)
• Page Start: 1071
• Page End: 1076
• Publication Date: 2017-02-12
• Subjects: megalencephaly -- AKT3 -- growth hormone deficiency; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.38099
• Languages: English
• ISSNs: 1552-4825

Abstract

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 . © 2017 Wiley Periodicals, Inc.