PDF(Pubmed)
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_152490.5: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.
摘要：
脑膨出是一种先天性畸形，其特征是颅内内容物通过颅骨缺损突出。我们报告说，连续两次怀孕并有超声检测到的脑膨出的孕妇胎儿在B3GALNT2NM_152490.5：c中携带复合杂合变体。[1423C>T（p。Gln475Ter）]；[261-2A>G]的母系和父系起源，分别,通过外显子组测序，然后进行Sanger测序验证。目前的情况表明，B3GALNT2中的突变，一种众所周知的营养不良症致病基因，可能会导致神经管缺陷的表型，为B3GALNT2相关疾病的临床谱提供新的见解。我们的研究可能有助于先天性脑畸形的产前筛查/诊断和遗传咨询。
