Middle interhemispheric variant of holoprosencephaly: First prenatal report of a ZIC2 missense mutation

Clinical Case Reports
Caroline GounongbéJulie Désir

Abstract

We present a case of a middle interhemispheric variant of antenatal discovery associated with a de novo missense variant (NM_007129.5: c.1109G>A p.(Cys370Tyr)) in the ZIC2 gene. Our case represents the first prenatal description of a ZIC2 missense mutation found in association with syntelencephaly.

References

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Methods Mentioned

BETA
exome sequencing
PCR

Software Mentioned

gnomAD
mem Unified Genotyper ‐ Haplotype Caller GATK
DEOGEN
FATHMM
BWA
PolyPhen
MutationTaster
Exome Variant Server
SIFT
CytoSure Analysis

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