Literature DB >> 28190287

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

Masaki Takagi1, Kazushige Dobashi2, Keiko Nagahara2, Mitsuhiro Kato2, Gen Nishimura3, Ryuji Fukuzawa4, Satoshi Narumi1,5, Tomonobu Hasegawa1.   

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. © 2017 Wiley Periodicals, Inc.

Entities:  

Keywords:  AKT3; growth hormone deficiency; megalencephaly

Mesh：

Substances：

Year:  2017        PMID： 28190287     DOI： 10.1002/ajmg.a.38099

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  4 in total

1.  Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA.

Authors:  Shanlee Davis; Meredith A Ware; Jordan Zeiger; Matthew A Deardorff; Katheryn Grand; Adda Grimberg; Stephanie Hsu; Megan Kelsey; Shideh Majidi; Revi P Matthew; Melanie Napier; Natalie Nokoff; Chitra Prasad; Andrew C Riggs; Margaret L McKinnon; Ghayda Mirzaa
Journal:  Am J Med Genet A       Date:  2019-11-15       Impact factor: 2.802

2.  Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

Authors:  Diana Alcantara; Andrew E Timms; Karen Gripp; Laura Baker; Kaylee Park; Sarah Collins; Chi Cheng; Fiona Stewart; Sarju G Mehta; Anand Saggar; László Sztriha; Melinda Zombor; Oana Caluseriu; Ronit Mesterman; Margot I Van Allen; Adeline Jacquinet; Sofia Ygberg; Jonathan A Bernstein; Aaron M Wenger; Harendra Guturu; Gill Bejerano; Natalia Gomez-Ospina; Anna Lehman; Enrico Alfei; Chiara Pantaleoni; Valerio Conti; Renzo Guerrini; Ute Moog; John M Graham; Robert Hevner; William B Dobyns; Mark O'Driscoll; Ghayda M Mirzaa
Journal:  Brain       Date:  2017-10-01       Impact factor: 13.501

3.  A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination.

Authors:  Masaki Takagi; Satoshi Shimomura; Ryuji Fukuzawa; Satoshi Narumi; Gen Nishimura; Tomonobu Hasegawa
Journal:  J Hum Genet       Date:  2018-09-18       Impact factor: 3.172

4.  Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

Authors:  Christel Depienne; Caroline Nava; Boris Keren; Solveig Heide; Agnès Rastetter; Sandrine Passemard; Sandra Chantot-Bastaraud; Marie-Laure Moutard; Pankaj B Agrawal; Grace VanNoy; Joan M Stoler; David J Amor; Thierry Billette de Villemeur; Diane Doummar; Caroline Alby; Valérie Cormier-Daire; Catherine Garel; Pauline Marzin; Sophie Scheidecker; Anne de Saint-Martin; Edouard Hirsch; Christian Korff; Armand Bottani; Laurence Faivre; Alain Verloes; Christine Orzechowski; Lydie Burglen; Bruno Leheup; Joelle Roume; Joris Andrieux; Frenny Sheth; Chaitanya Datar; Michael J Parker; Laurent Pasquier; Sylvie Odent; Sophie Naudion; Marie-Ange Delrue; Cédric Le Caignec; Marie Vincent; Bertrand Isidor; Florence Renaldo; Fiona Stewart; Annick Toutain; Udo Koehler; Birgit Häckl; Celina von Stülpnagel; Gerhard Kluger; Rikke S Møller; Deb Pal; Tord Jonson; Maria Soller; Nienke E Verbeek; Mieke M van Haelst; Carolien de Kovel; Bobby Koeleman; Glen Monroe; Gijs van Haaften; Tania Attié-Bitach; Lucile Boutaud; Delphine Héron; Cyril Mignot
Journal:  Hum Genet       Date:  2017-03-10       Impact factor: 4.132
  4 in total

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