title: A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency.
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.
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Masaki
authors.initials: M
authors.lastname: Takagi
authors.affiliation: Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
authors.forename: Kazushige
authors.initials: K
authors.lastname: Dobashi
authors.affiliation: Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
authors.forename: Keiko
authors.initials: K
authors.lastname: Nagahara
authors.affiliation: Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Kato
authors.affiliation: Department of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.affiliation: Department of Pathology and Laboratory Medicine, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
authors.forename: Ryuji
authors.initials: R
authors.lastname: Fukuzawa
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.|Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Narumi
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Tomonobu
authors.initials: T
authors.lastname: Hasegawa
mesh_terms: D000595:Amino Acid Sequence; D044466:Asian People; D001483:Base Sequence; D002675:Child, Preschool; D003238:Connective Tissue / Q000378:metabolism / Q000473:pathology; D059472:Exome; D015870:Gene Expression; D018095:Germ-Line Mutation; D013006:Growth Hormone / Q000172:deficiency* / Q000235:genetics; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D058627:Megalencephaly / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D051057:Proto-Oncogene Proteins c-akt / Q000235:genetics* / Q000378:metabolism
chemical_list: D013006:Growth Hormone; C491754:AKT3 protein, human; D051057:Proto-Oncogene Proteins c-akt
keywords: AKT3; growth hormone deficiency; megalencephaly