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

被引:0
|
作者
Ling, Dandan [1 ,2 ]
Xie, Wanqin [1 ,3 ]
Mao, Xiao [1 ,3 ]
Yang, Shengzhi [4 ]
Pang, Haiyan [5 ]
Yang, Ping [1 ,2 ]
Shen, Ping [1 ,2 ]
Tang, Yabing [1 ,2 ,6 ]
机构
[1] Clin Res Ctr Placental Med Hunan Prov, Changsha, Peoples R China
[2] Hunan Prov Maternal & Child Hlth Care Hosp, Dept Obstet, Changsha, Peoples R China
[3] Hunan Prov Maternal & Child Hlth Care Hosp, NHC Key Labratory Birth Defects Res & Prevent, Changsha, Peoples R China
[4] Hunan Prov Maternal & Child Hlth Care Hosp, Dept Pediat, Changsha, Peoples R China
[5] Weifang Med Univ, Affiliated Hosp, Dept Reprod Med, Weifang, Peoples R China
[6] Hunan Prov Maternal & Child Hlth Care Hosp, Dept Obstet, Changsha 41000, Peoples R China
来源
CLINICAL CASE REPORTS | 2024年 / 12卷 / 04期
关键词
B3GALNT2; dystroglycanopathy; Encephalocele; neural tube defects; prenatal diagnosis; CONGENITAL MUSCULAR-DYSTROPHY;
D O I
10.1002/ccr3.8691
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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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页数:5
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