Prenatal diagnosis of Walker-Warburg syndrome due to compound mutations in the B3GALNT2 gene.
Prenatal diagnosis of Walker-Warburg syndrome due to compound mutations in the B3GALNT2 gene.
复制标题
B3GALNT2 基因复合突变所致沃克-沃伯格综合征的产前诊断。
DOI：
10.1002/jgm.3417
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发表时间：
2022-05
影响因子：
3.5
通讯作者：
Dong, Minyue
中科院分区：
文献类型：
--
作者：
Wang, Peng;Jin, Pengzhen;Zhu, Linyan;Chen, Min;Qian, Yeqing;Zeng, Wenshan;Wang, Miaomiao;Xu, Yuqing;Xu, Yanfei;Dong, Minyue
关键词：
先天性脑积水是Walker-Warburg综合征的症状之一，可归因于基因的破坏，其中B3GALNT2基因的报道很少。Walker-Warburg综合征的诊断依赖于临床表现和出生后的全外显子组测序，不利于早期诊断。在两个患有严重胎儿先天性脑积水的家庭中怀疑有Walker-Warburg综合征。对感染的胎儿进行全外显子测序和Sanger测序。在B3GALNT2基因中发现了可能致病和可能致病的复合杂合变异体c.1a>；G p.(Met1val)和c.1151+1G>；A；以及c.1068dupT p.(D357*)和c.1052 T>；A p.(L351*)。Walker-Warburg综合征的产前诊断是基于胎儿影像和全外显子组测序。我们的发现扩大了Walker-Warburg综合征致病突变的范围，并为该疾病的产前诊断提供了新的见解。Walker-Warburg综合征(WWS)是如何产前诊断的？本研究首次在妊娠20 周发现B3GALNT2基因突变，为WWS的产前诊断提供了新的思路。
Congenital hydrocephalus is one of the symptoms of Walker–Warburg syndrome that is attributed to the disruptions of the genes, among which the B3GALNT2 gene is rarely reported. A diagnosis of the Walker–Warburg syndrome depends on the clinical manifestations and the whole‐exome sequencing after birth, which is unfavorable for an early diagnosis. Walker–Warburg Syndrome was suspected in two families with severe fetal congenital hydrocephalus. Whole‐exome sequencing and Sanger sequencing were performed on the affected fetuses. The compound heterozygous variants c.1A>G p.(Met1Val) and c.1151+1G>A, and c.1068dupT p.(D357*) and c.1052 T>A p.(L351*) in the B3GALNT2 gene were identified, which were predicted to be pathogenic and likely pathogenic, respectively. Walker–Warburg syndrome was prenatally diagnosed on the basis of fetal imaging and whole‐exome sequencing. Our findings expand the spectrum of pathogenic mutations in Walker–Warburg syndrome and provide new insights into the prenatal diagnosis of the disease. How is Walker–Warburg Syndrome (WWS) diagnosed prenatally? The present study is the first to identify the mutations in the B3GALNT2 gene by as early as 20 weeks of gestation, which provides new insights into the prenatal diagnosis of WWS.
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影响因子：
5.2
作者：
Hedberg, Carola;Oldfors, Anders;Darin, Niklas
通讯作者：
Darin, Niklas
影响因子：
11.2
作者：
Shaheen, Ranad;Sebai, Mohammed Adeeb;Alkuraya, Fowzan S.
通讯作者：
Alkuraya, Fowzan S.
DOI：
10.1001/archneurpsyc.1942.02290070023002
发表时间：
1942-07-01
影响因子：
--
作者：
Walker, E
通讯作者：
Walker, E
影响因子：
82.9
作者：
Jin SC;Dong W;Kundishora AJ;Panchagnula S;Moreno-De-Luca A;Furey CG;Allocco AA;Walker RL;Nelson-Williams C;Smith H;Dunbar A;Conine S;Lu Q;Zeng X;Sierant MC;Knight JR;Sullivan W;Duy PQ;DeSpenza T;Reeves BC;Karimy JK;Marlier A;Castaldi C;Tikhonova IR;Li B;Peña HP;Broach JR;Kabachelor EM;Ssenyonga P;Hehnly C;Ge L;Keren B;Timberlake AT;Goto J;Mangano FT;Johnston JM;Butler WE;Warf BC;Smith ER;Schiff SJ;Limbrick DD Jr;Heuer G;Jackson EM;Iskandar BJ;Mane S;Haider S;Guclu B;Bayri Y;Sahin Y;Duncan CC;Apuzzo MLJ;DiLuna ML;Hoffman EJ;Sestan N;Ment LR;Alper SL;Bilguvar K;Geschwind DH;Günel M;Lifton RP;Kahle KT
通讯作者：
Kahle KT
影响因子：
16.2
作者：
Furey CG;Choi J;Jin SC;Zeng X;Timberlake AT;Nelson-Williams C;Mansuri MS;Lu Q;Duran D;Panchagnula S;Allocco A;Karimy JK;Khanna A;Gaillard JR;DeSpenza T;Antwi P;Loring E;Butler WE;Smith ER;Warf BC;Strahle JM;Limbrick DD;Storm PB;Heuer G;Jackson EM;Iskandar BJ;Johnston JM;Tikhonova I;Castaldi C;López-Giráldez F;Bjornson RD;Knight JR;Bilguvar K;Mane S;Alper SL;Haider S;Guclu B;Bayri Y;Sahin Y;Apuzzo MLJ;Duncan CC;DiLuna ML;Günel M;Lifton RP;Kahle KT
通讯作者：
Kahle KT