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Title: Multiple miscarriages in two sisters of Thai origin with the rare P<sup>k</sup> phenotype caused by a novel nonsense mutation at the B3GALNT1 locus
Authors: J. Ricci Hagman
A. K. Hult
J. S. Westman
B. Hosseini-Maaf
P. Jongruamklang
J. Saipin
S. Bejrachandra
M. L. Olsson
Region Skåne
Lunds Universitet
Faculty of Medicine, Siriraj Hospital, Mahidol University
Keywords: Medicine
Issue Date: 1-Jun-2019
Citation: Transfusion Medicine. Vol.29, No.3 (2019), 202-208
Abstract: © 2018 British Blood Transfusion Society Objectives: To determine the genetic background underlying the Pk 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 Pk 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/Pk 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–Pk+, i.e. had the Pk phenotype. Sequencing revealed homozygosity for a nonsense mutation, c.420T>G, 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.420T>G) in B3GALNT1 (GLOB*01N·13), which was added to the 12 alleles already known in the GLOB system.
ISSN: 13653148
Appears in Collections:Scopus 2019

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