Compound heterozygous B3GALNT2 mutations in a fetus with encephalocele: A case report.
Clin Case Rep
; 12(4): e8691, 2024 Apr.
Article
in En
| MEDLINE
| ID: mdl-38585583
ABSTRACT
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_152490.5c.[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.
Full text:
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Database:
MEDLINE
Language:
En
Journal:
Clin Case Rep
Year:
2024
Type:
Article