Severe antenatal intraventricular hemorrhage in a newborn with WASP pathogenic variant

Leyla Sero; Nilufer Okur; Amed Diyar Yalcin; Aysel Unal

doi:10.1016/j.ejmg.2022.104553

Severe antenatal intraventricular hemorrhage in a newborn with WASP pathogenic variant

Eur J Med Genet. 2022 Aug;65(8):104553. doi: 10.1016/j.ejmg.2022.104553. Epub 2022 Jun 28.

Authors

Leyla Sero¹, Nilufer Okur², Amed Diyar Yalcin³, Aysel Unal⁴

Affiliations

¹ Division of Neonatology, Gazi Yaşargil Training and Research Hospital, Diyarbakir, Turkey.
² Division of Neonatology, Gazi Yaşargil Training and Research Hospital, Diyarbakir, Turkey. Electronic address: [email protected].
³ Division of Neonatology, Gazi Yaşargil Training and Research Hospital, Diyarbakir, Turkey. Electronic address: [email protected].
⁴ Departmant of Medical Genetic, Gazi Yaşargil Training and Research Hospital, Diyarbakir, Turkey. Electronic address: [email protected].

PMID: 35777621
DOI: 10.1016/j.ejmg.2022.104553

Abstract

Wiskott-Aldrich syndrome (WAS) is a rare X-linked immunodeficiency disorder caused by abnormal expression of the Wiskott-Aldrich syndrome protein due to WAS gene mutation, usually characterized by microthrombocytopenia, eczema, hematological malignancies, recurrent infections, and a high risk of autoimmune complications. In this report, we present a family presenting with severe intrauterine cranial hemorrhage. The family has novel c.1377_1378dup (p.Pro460Hisfs*12) variant of WAS gene. The severe and early onset clinic in the family seems to be related to location of the variant on VCA domain of the WAS protein.

Keywords: Intraventricular hemorrhage; Thrombocytopenia; Wiskott-Aldrich syndrome.

MeSH terms

Female
Hemorrhage
Humans
Infant, Newborn
Mutation
Pregnancy
Wiskott-Aldrich Syndrome Protein* / genetics
Wiskott-Aldrich Syndrome* / genetics

Substances

Wiskott-Aldrich Syndrome Protein