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

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 syntelencephal...

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Detalles Bibliográficos
Autores principales: Gounongbé, Caroline, Marangoni, Martina, Gouder de Beauregard, Vanessa, Delaunoy, Mélanie, Jissendi, Patrice, Cassart, Marie, Désir, Julie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7364085/
https://www.ncbi.nlm.nih.gov/pubmed/32695376
http://dx.doi.org/10.1002/ccr3.2896
Descripción
Sumario: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.

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