Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings-Reference-Cited by-同舟云学术

Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings

Published:2020-08 Issue: Volume:115 Page:104471
ISSN:0014-4800
Container-title:Experimental and Molecular Pathology
language:en
Short-container-title:Experimental and Molecular Pathology

Author:

Szalai Renata,Melegh Bela I.,Till Agnes,Ripszam Reka,Csabi Gyorgyi,Acharya Anushree,Schrauwen Isabelle,Leal Suzanne M.,Komoly Samuel,Kosztolanyi Gyorgy,Hadzsiev Kinga

Funder

National Scientific Research Program

Centre for Excellence - Centre of Molecular Medicine

Publisher

Elsevier BV

Subject

Clinical Biochemistry,Molecular Biology,Pathology and Forensic Medicine

Reference35 articles.

1. Predicting functional effect of human missense mutations using PolyPhen-2;Adzhubei;Curr. Protoc. Hum. Genet.,2013

2. Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly;Alcantara;Brain,2017

3. High consanguinity rate in Hungarian gipsy communities;Assal;Acta Paediatr. Hung.,1991

4. 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;Ballif;Hum. Genet.,2012

5. The variant call format and VCFtools;Danecek;Bioinformatics,2011

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact;Fluids and Barriers of the CNS;2024-03-04

2. The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact;2023-12-04

3. Prenatal Ultrasound Diagnosis of Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome with Persistent Hyperplastic Primary Vitreous: A Case Report;Fetal Diagnosis and Therapy;2023-11-26

4. The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth;Genes, Chromosomes and Cancer;2023-07-03

5. Megalencephaly Polymicrogyria Polydactyly Hydrocephalus (MPPH): A Case Report and Review of Literature;Cureus;2021-07-03