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

Autor: Gounongbé C; Department of Fetal Medicine CHU Saint-Pierre Brussels Belgium., Marangoni M; Center of Human Genetics Hôpital Erasme Université Libre de Bruxelles Brussels Belgium., Gouder de Beauregard V; Department of Pediatrics CHU Saint-Pierre Brussels Belgium., Delaunoy M; Center of Human Genetics Hôpital Erasme Université Libre de Bruxelles Brussels Belgium., Jissendi P; Department of Radiology Hôpitaux Iris Sud and CHU Saint-Pierre Brussels Belgium., Cassart M; Department of Fetal Medicine CHU Saint-Pierre Brussels Belgium.; Department of Radiology Hôpitaux Iris Sud and CHU Saint-Pierre Brussels Belgium., Désir J; Center of Human Genetics Hôpital Erasme Université Libre de Bruxelles Brussels Belgium.; Department of Radiology Hôpitaux Iris Sud and CHU Saint-Pierre Brussels Belgium.
Jazyk: angličtina
Zdroj: Clinical case reports [Clin Case Rep] 2020 Apr 30; Vol. 8 (7), pp. 1287-1292. Date of Electronic Publication: 2020 Apr 30 (Print Publication: 2020).
DOI: 10.1002/ccr3.2896
Abstrakt: 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.
Competing Interests: None declared.
(© 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
Externí odkaz:
Nepřihlášeným uživatelům se plný text nezobrazuje