Duplication of AKT3 is associated with macrocephaly and speech delay

American Journal of Medical Genetics, Part A

Volumn 164, Issue 7, 2014, Pages 1868-1869

  Chung, Brian K ^a   Eydoux, Patrice ^b   Van Karnebeek, Clara D ^a   Gibson, William T ^a  

^a BC CHILDREN S HOSPITAL   (Canada)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

AKT3 GENE; ARTICLE; BODY HEIGHT; BODY WEIGHT; CASE REPORT; CEP170 GENE; CHILD; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DOSAGE; GENE DUPLICATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOME ANALYSIS; HEAD CIRCUMFERENCE; HUMAN; LOC339529 GENE; MACROCEPHALY; MALE; MICROARRAY ANALYSIS; MIR4677 GENE; MUTATOR GENE; PRIORITY JOURNAL; SCHOOL CHILD; SDCCAG8 GENE; SPEECH DELAY; ZNF238 GENE; ALEXANDER DISEASE; CHROMOSOME 1; DEVELOPMENTAL DISORDER; FEMALE; GENETICS; INTELLECTUAL IMPAIRMENT;

PROTEIN KINASE B;

CHROMOSOMES, HUMAN, PAIR 1; DEVELOPMENTAL DISABILITIES; FEMALE; GENE DUPLICATION; HUMANS; INTELLECTUAL DISABILITY; MEGALENCEPHALY; PROTO-ONCOGENE PROTEINS C-AKT;

EID: 84902543732     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36521     Document Type: Article

References (3)

1. Ballif BC, Rosenfeld JA, Traylor R, Theisen A, Bader PI, Ladda RL, Sell SL, Steinraths M, Surti U, McGuire M, Williams S, Farrell SA, Filiano J, Schnur RE, Coffey LB, Tervo RC, Stroud T, Marble M, Netzloff M, Hanson K, Aylsworth AS, Banforth JS, Babu D, Niyazov DM, Ravnan JV, Schultz RA, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG. 2011. High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. Hum Genet 131:145-156.
2. Riviere JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Droulet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL. Finding of Rare Disease Genes (FORGE) Canada Consortium. Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM, Jr. Boycott KM, Dobyns WB, 2012. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet 44:934-940.
3. Wang D, Zeesman S, Tarnopolsky MA, Nowaczyk MJ. 2013. Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44. Am J Med Genet A 161A:2016-2019.