Multiple miscarriages in two sisters of Thai origin with the rare P k k phenotype caused by a novel nonsense mutation at the B3GALNT1 B3GALNT1 locus

Ricci Hagman J.; Hult A. K.; Westman J. S.; Hosseini‐Maaf B.; Jongruamklang P.; Saipin J.; Bejrachandra S.; Olsson M. L.

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Multiple miscarriages in two sisters of Thai origin with the rare P k k phenotype caused by a novel nonsense mutation at the B3GALNT1 B3GALNT1 locus

机译：在泰国血管突变的两个姐妹中，罕见的P k K表型由B3GalnT1 B3Galnt1基因座的新型非本文突变引起的罕见p k k表型

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SUMMARY Objectives To determine the genetic background underlying the P k phenotype in two Thai sisters suffering from multiple spontaneous abortions. Background The P antigen is carried by globoside, an abundant glycosphingolipid in the red blood cell (RBC) membrane. Inactivating mutations in the 3‐β‐ N ‐acetylgalactosaminyltransferase gene ( B3GALNT1 ) give rise to the rare P k phenotype, which lack the P and PX2 antigens. Consequently, naturally occurring anti‐P may cause recurrent miscarriages following the cytotoxic attack of the globoside‐rich fetal portion of the placenta. Methods/Materials P/P1/PX2/P k antigens on RBCs and their corresponding antibodies were detected by haemagglutination and flow cytometry. The B3GALNT1 coding region was sequenced, and an allele‐specific polymerase chain reaction (PCR) was developed. Results The two sisters had suffered 8 and 11 miscarriages, most of which occurred in the first trimester. Anti‐P and anti‐PX2 were identified in their plasmas, and the RBCs typed as P–PX2–P k +, i.e. had the P k phenotype. Sequencing revealed homozygosity for a nonsense mutation, c.420TG, in B3GALNT1 . This substitution introduces a premature stop codon, p.Tyr140Ter, which is predicted to abolish enzymatic activity. Screening of 384 Thai donors indicated an allele frequency of 0·13%. Conclusion We describe a novel nonsense mutation (c.420TG) in B3GALNT1 ( GLOB*01N·13 ), which was added to the 12 alleles already known in the GLOB system.

机译：摘要目的是确定患有多个自发堕胎的两位泰国姐妹患者的遗传背景。背景技术P抗原由地球化物，红细胞（RBC）膜中的丰富糖磷脂。在3-β-乙酰甘氨酸氨基甲酰基转移酶基因（B3GALNT1）中的灭活突变产生罕见的P k表型，其缺乏P和PX2抗原。因此，在胎盘的富含地球化物的胎儿部分的细胞毒性发作后，天然存在的抗P可能导致复发性流产。方法/材料P / P1 / PX2 / P抗原通过血红素凝集和流式细胞术检测RBC及其相应的抗体。测序B3GALNT1编码区域，并开发了等位基因特异性聚合酶链反应（PCR）。结果两个姐妹患了8至11个流产，其中大部分发生在孕中期。在其等离子体中鉴定抗P和抗PX2，并且RBC键入为P-PX2-P k +，即具有P k表型。测序显示了非义突变的纯合子，C.420t＆ g，在b3galnt1中。该替换引入了过早的止脚密码子P.TyR140Ter，其预测是消除酶活性的。 384泰国捐赠者的筛选表明等位基因频率为0·13％。结论我们在B3GALNT1（Glob * 01N·13）中描述了一种新的非义突变（C.420t＆ g），其加入到Glob系统中已经已知的12个等位基因中。

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《Transfusion medicine》 |2019年第3期|共7页
作者
Ricci Hagman J.; Hult A. K.; Westman J. S.; Hosseini‐Maaf B.; Jongruamklang P.; Saipin J.; Bejrachandra S.; Olsson M. L.;
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作者单位

Division of Hematology and Transfusion Medicine Department of Laboratory MedicineLund;

Division of Hematology and Transfusion Medicine Department of Laboratory MedicineLund;

Division of Hematology and Transfusion Medicine Department of Laboratory MedicineLund;

Clinical Immunology and Transfusion Medicine Division of Laboratory Medicine Office of Medical;

Division of Hematology and Transfusion Medicine Department of Laboratory MedicineLund;

Department of Transfusion Medicine Faculty of Medicine Siriraj HospitalMahidol UniversityBangkok;

Department of Transfusion Medicine Faculty of Medicine Siriraj HospitalMahidol UniversityBangkok;

Division of Hematology and Transfusion Medicine Department of Laboratory MedicineLund;

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正文语种 eng
中图分类治疗学;
关键词
anti‐P; B3GALNT1; glycosyltransferase; miscarriage; P k phenotype;

机译：抗p;b3galnt1;糖基转移酶;流产;p k表型;

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1. Multiple miscarriages in two sisters of Thai origin with the rare P k k phenotype caused by a novel nonsense mutation at the B3GALNT1 B3GALNT1 locus [J] . Ricci Hagman J., Hult A. K., Westman J. S., Transfusion medicine . 2019,第3期

机译：在泰国血管突变的两个姐妹中，罕见的P k K表型由B3GalnT1 B3Galnt1基因座的新型非本文突变引起的罕见p k k表型
2. A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia [J] . Zechi-CeideR.M., MouraP.P., RaskinS., American journal of medical genetics, Part A . 2013,第8期

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5. Functional studies of rare CFTR missense mutations facilitate interpretation of genotype-phenotype relationships. [D] . Krasnov, Kristina V. 2009

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6. A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290 [O] . Susanne Roosing, Frans P. M. Cremers, Frans C. C. Riemslag, 2017

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机译：CEp290中一种罕见形式的视网膜营养不良引起的畸形无义突变

Multiple miscarriages in two sisters of Thai origin with the rare P k k phenotype caused by a novel nonsense mutation at the B3GALNT1 B3GALNT1 locus

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