TY - JOUR
T1 - A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency
AU - Takagi, Masaki
AU - Dobashi, Kazushige
AU - Nagahara, Keiko
AU - Kato, Mitsuhiro
AU - Nishimura, Gen
AU - Fukuzawa, Ryuji
AU - Narumi, Satoshi
AU - Hasegawa, Tomonobu
N1 - Publisher Copyright:
© 2017 Wiley Periodicals, Inc.
PY - 2017/4/1
Y1 - 2017/4/1
N2 - 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.
AB - 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.
KW - AKT3
KW - growth hormone deficiency
KW - megalencephaly
UR - http://www.scopus.com/inward/record.url?scp=85012891427&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85012891427&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.38099
DO - 10.1002/ajmg.a.38099
M3 - Article
C2 - 28190287
AN - SCOPUS:85012891427
SN - 1552-4825
VL - 173
SP - 1071
EP - 1076
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 4
ER -