A novel nonsense mutation of ZEB2 gene in a Chinese patient with Mowat-Wilson syndrome.

Journal of Clinical Laboratory Analysis
Yuan HuXiaomei Lu

Abstract

Mowat-Wilson syndrome (MWS) is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and multiple anomalies caused by haploinsufficiency of the ZEB2 gene. We investigated the genetic causes of MWS in a 14-year-old girl who had characteristic features of MWS. Clinical data and peripheral blood DNA samples were collected from the proband. Following extraction of genomic DNA, whole-exome sequencing was conducted to detect genetic variants. Bioinformatics analysis was carried out to predict the function of the mutant gene. Mutation analysis of the proband identified a novel nonsense mutation (c.250G > T, p.E84*) within exon 3 of the ZEB2 gene. This novel alteration resulted in a termination codon at amino acid position 84, which was predicted to encode a truncated protein. This variant was not present in unrelated healthy control samples that were obtained from the exome sequence databases ExAc browser (http://exac.broadinstitute.org/) and gnomAD browser (http://gnomad.broadinstitute.org/). It is a novel variant that was determined to be a deleterious mutation according to the variant interpretation guidelines of the ACMG. The results of our study suggest that the p.E84* mutation in the ZEB2...Continue Reading

References

May 15, 2003·Journal of Medical Genetics·D R MowatM Goossens
Aug 2, 2005·European Journal of Medical Genetics·Christiane ZweierAnita Rauch
Nov 15, 2006·American Journal of Medical Genetics. Part a·Margaret P AdamLouanne Hudgins
Jan 5, 2007·Human Mutation·Florence Dastot-Le MoalMichel Goossens
Oct 21, 2009·American Journal of Medical Genetics. Part a·Carol J SaundersHolly H Ardinger
Jan 17, 2012·American Journal of Medical Genetics. Part a·Elizabeth EvansMeredith Wilson
Jan 17, 2013·American Journal of Medical Genetics. Part a·Duccio Maria CordelliEmilio Franzoni
Mar 8, 2013·Human Molecular Genetics·Jamal GhoumidIrina Giurgea
Apr 10, 2014·American Journal of Medical Genetics. Part a·Yasukazu YamadaNobuaki Wakamatsu
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
Nov 11, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Livia GaravelliAlex R Paciorkowski
Jan 5, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Ivan IvanovskiLivia Garavelli
Aug 8, 2018·Human Genome Variation·Maria Florencia GossoMartin Vazquez
Sep 30, 2018·Brain Research·Ekaterina EpifanovaVictor Tarabykin
Dec 24, 2018·Pediatrics·Claudia G Nevarez FloresHoward Hast

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Methods Mentioned

BETA
transgenic

Software Mentioned

MKL
NextGENe
FATHMM
MutationTaster
LRT
ExAc

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