Novel compound heterozygous mutations in the WWOX gene cause early infantile epileptic encephalopathy

2019 ◽  
Vol 79 (1) ◽  
pp. 45-48 ◽  
Author(s):  
Chengqing Yang ◽  
Ying Zhang ◽  
Zhenfeng Song ◽  
Zhi Yi ◽  
Fei Li
Keyword(s):  
Epileptic Encephalopathy ◽  
Compound Heterozygous ◽  
Compound Heterozygous Mutations ◽  
Wwox Gene

scholarly journals In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth.

2018 ◽  
Author(s):  
Allison J Cox ◽  
Fillan Grady ◽  
Gabriel Velez ◽  
Vinit B Mahajan ◽  
Polly J Ferguson ◽  
...  
Keyword(s):  
Multiple Testing ◽  
Neuronal Development ◽  
Variant Calling ◽  
Epileptic Encephalopathy ◽  
European Ancestry ◽  
Compound Heterozygous ◽  
Recessive Trait ◽  
Individual Level ◽  
1000 Genomes ◽  
Compound Heterozygous Mutations

Compound heterozygotes occur when different mutations at the same locus on both maternal and paternal chromosomes produce a recessive trait. Here we present the tool VarCount for the quantification of mutations at the individual level. We used VarCount to characterize compound heterozygous coding variants in patients with epileptic encephalopathy and in the 1000 genomes participants. The Epi4k data contains variants identified by whole exome sequencing in patients with either Lennox-Gastaut Syndrome (LGS) or Infantile Spasms (IS), as well as their parents. We queried the Epi4k dataset (264 trios) and the phased 1000 genomes data (2504 participants) for recessive variants. To assess enrichment, transcript counts were compared between the Epi4k and 1000 genomes participants using minor allele frequency (MAF) cutoffs of 0.5% and 1.0%, and including all ancestries or only probands of European ancestry. In the Epi4k participants, we found enrichment for rare, compound heterozygous mutations in six genes, including three involved in neuronal growth and development; PRTG (p=0.00086, 1% MAF, combined ancestries), TNC (p=0.0221% MAF, combined ancestries), and MACF1 (p=0.0245, 0.5% MAF, EU ancestry). Due the total number of transcripts considered in these analyses, the enrichment detected was not significant after correction for multiple testing and higher powered or prospective studies are necessary to validate the candidacy of these genes. However, PRTG, TNC, and MACF1 are potential novel recessive epilepsy genes and our results highlight that compound heterozygous mutations should be considered in sporadic epilepsy.

scholarly journals Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy

2017 ◽  
Vol 26 (9) ◽  
pp. 1706-1715 ◽  
Author(s):  
Devon L. Johnstone ◽  
Thi-Tuyet-Mai Nguyen ◽  
Yoshiko Murakami ◽  
Kristin D. Kernohan ◽  
Martine Tétreault ◽  
...  
Keyword(s):  
Epileptic Encephalopathy ◽  
Compound Heterozygous ◽  
Compound Heterozygous Mutations

scholarly journals Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters

2017 ◽  
Vol 18 (1) ◽  
Author(s):  
Gudny A. Arnadottir ◽  
Brynjar O. Jensson ◽  
Sigurdur E. Marelsson ◽  
Gerald Sulem ◽  
Asmundur Oddsson ◽  
...  
Keyword(s):  
Early Onset ◽  
Epileptic Encephalopathy ◽  
Compound Heterozygous ◽  
Compound Heterozygous Mutations

A Case of Nonbullous Congenital Ichthyosiform Erythroderma Caused by Compound Heterozygous Mutations in TGM1

2019 ◽  
Vol 81 (2) ◽  
pp. 103-105
Author(s):  
Hitomi MARUSHIMA ◽  
Yuka MIYOSHI ◽  
Akemi TAKEMOTO ◽  
Junji NAKANO
Keyword(s):  
Compound Heterozygous ◽  
Compound Heterozygous Mutations ◽  
Congenital Ichthyosiform Erythroderma

Primary Microcephaly With Anterior Predominant Pachygyria Caused by Novel Compound Heterozygous Mutations in ASPM

2015 ◽  
Vol 52 (5) ◽  
pp. e7-e8 ◽  
Author(s):  
Kazuyuki Nakamura ◽  
Takehiko Inui ◽  
Fuyuki Miya ◽  
Yonehiro Kanemura ◽  
Nobuhiko Okamoto ◽  
...  
Keyword(s):  
Compound Heterozygous ◽  
Primary Microcephaly ◽  
Compound Heterozygous Mutations
Sign in / Sign up

Export Citation Format

Share Document