Compound heterozygous B3GALNT2 mutations in a fetus with encephalocele: A case report

We report that a fetus of a pregnant mother who had two consecutive pregnancies with ultrasound-detected encephalocele carried compound heterozygous variants inB3GALNT2 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 inB3GALNT2, a well-known dystroglycanopathy causative gene, may result in a phenotype of neural tube defect, providing new insights into the clinical spectrum ofB3GALNT2-related disorders. Our study may contribute to prenatal screening/diagnosis and genetic counseling of congenital brain malformations.
Source: Clinical Case Reports - Category: General Medicine Authors: Tags: CASE REPORT Source Type: research