10.3389/fgene.2019.00058.s001
Fátima Lopes
Fátima
Lopes
Fátima Torres
Fátima
Torres
Gabriela Soares
Gabriela
Soares
Clara D. van Karnebeek
Clara D.
van Karnebeek
Cecília Martins
Cecília
Martins
Diana Antunes
Diana
Antunes
João Silva
João
Silva
Lauren Muttucomaroe
Lauren
Muttucomaroe
Luís Filipe Botelho
Luís Filipe
Botelho
Susana Sousa
Susana
Sousa
Paula Rendeiro
Paula
Rendeiro
Purificação Tavares
Purificação
Tavares
Hilde Van Esch
Hilde
Van Esch
Evica Rajcan-Separovic
Evica
Rajcan-Separovic
Patrícia Maciel
Patrícia
Maciel
Table_1_The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review.DOCX
Frontiers
2019
1q43-q44 CNVs
AKT3
microcephaly
macrocephaly
ZBTB18
SDCCAG8
phenotypic expressivity
2019-02-22 04:10:00
Dataset
https://frontiersin.figshare.com/articles/dataset/Table_1_The_Role_of_AKT3_Copy_Number_Changes_in_Brain_Abnormalities_and_Neurodevelopmental_Disorders_Four_New_Cases_and_Literature_Review_DOCX/7755308
<p>Microdeletions at 1q43-q44 have been described as resulting in a clinically recognizable phenotype of intellectual disability (ID), facial dysmorphisms and microcephaly (MIC). In contrast, the reciprocal microduplications of 1q43-q44 region have been less frequently reported and patients showed a variable phenotype, including macrocephaly. Reports of a large number of patients with copy number variations involving this region highlighted the AKT3 gene as a likely key player in head size anomalies. We report four novel patients with copy number variations in the 1q43-q44 region: one with a larger deletion (3.7Mb), two with smaller deletions affecting AKT3 and SDCCAG8 genes (0.16 and 0.18Mb) and one with a quadruplication (1Mb) that affects the entire AKT3 gene. All patients with deletions presented MIC without structural brain abnormalities, whereas the patient with quadruplication had macrocephaly, but his carrier father had normal head circumference. Our report also includes a comparison of phenotypes in cases with 1q43-q44 duplications to assist future genotype-phenotype correlations. Our observations implicate AKT3 as a contributor to ID/development delay (DD) and head size but raise doubts about its straightforward impact on the latter aspect of the phenotype in patients with 1q43-q44 deletion/duplication syndrome.</p>