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 in | Clinical case reports Vol. 12; no. 4; pp. e8691 - n/a |
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Main Authors | , , , , , , , |
Format | Journal Article |
Language | English |
Published |
England
John Wiley & Sons, Inc
01.04.2024
Wiley |
Subjects | |
Online Access | Get full text |
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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. |
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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 |