First description of the MEGDEHL syndrome in the Tunisian population via whole-exome sequencing: Novel nonsense mutation in SERAC1 gene.

Rahma FelhiKamel MonastiriHayet Ben HamidaMarwa AmmarFatma Zohra ChioukhBrahim TabarkiJihene ChouchenFaiza FakhfakhAbdelaziz TliliEmna Mkaouar-Rebai

Published in: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience (2022)

Sequencing results and bioinformatic tools confirmed that the novel mutation (p.W460X) in the SERAC1 gene causes the severe phenotype in the studied family with MEGDEHL syndrome.

Keyphrases

copy number
genome wide
case report
genome wide identification
single cell
early onset
gene expression
transcription factor
drug induced