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

Key Clinical Message 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 v...

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Published inClinical case reports Vol. 12; no. 4; pp. e8691 - n/a
Main Authors Ling, Dandan, Xie, Wanqin, Mao, Xiao, Yang, Shengzhi, Pang, Haiyan, Yang, Ping, Shen, Ping, Tang, Yabing
Format Journal Article
LanguageEnglish
Published England John Wiley & Sons, Inc 01.04.2024
Wiley
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Summary:Key Clinical Message 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.
Bibliography:Dandan Ling and Wanqin Xie contributed equally to this work and should be considered co‐first authors.
ObjectType-Case Study-2
SourceType-Scholarly Journals-1
content type line 23
ObjectType-Report-1
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.8691