%0 Case Reports
%T Compound heterozygous B3GALNT2 mutations in a fetus with encephalocele: A case report.
%A Ling D
%A Xie W
%A Mao X
%A Yang S
%A Pang H
%A Yang P
%A Shen P
%A Tang Y
%J Clin Case Rep
%V 12
%N 4
%D 2024 Apr
%M 38585583
暂无%R 10.1002/ccr3.8691
%X An encephalocele is a congenital malformation characterized by protrusion of the intracranial contents through a cranial defect. We report that a fetus of a pregnant mother who had two consecutive pregnancies with ultrasound-detected encephalocele carried compound heterozygous variants in B3GALNT2 NM_152490.5:c.[1423C > T (p.Gln475Ter)]; [261-2A > G] of maternal and paternal origins, respectively, as confirmed by exome sequencing followed by Sanger sequencing validation. The present case implies that mutations in B3GALNT2, a well-known dystroglycanopathy causative gene, may result in a phenotype of neural tube defect, providing new insights into the clinical spectrum of B3GALNT2-related disorders. Our study may contribute to prenatal screening/diagnosis and genetic counseling of congenital brain malformations.