Guohua Li, Mengyang Du, Xujing Deng, Shuping Wang, Zhou Zhou, Junyu Zhang, Shihua Bao
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引用次数: 0
摘要
罕见的 PP1Pk 血型系统中的罕见 p 表型与第一胎自然流产密切相关。研究表明，A4GALT 基因变异导致了 p 表型。在此，我们报告了一名患有 p 表型和反复妊娠流产的中国女性的 A4GALT 基因中的两个新型复合杂合变异。我科收治了一名反复妊娠流产的 24 岁女性。她被确诊为抗PP1Pk抗体阳性，IgG滴度为1:32。全外显子组测序显示，A4GALT 基因中存在两个复合新杂合变异 c.370_371del 和 c.507C>G，这两个变异导致了该女性的 p 表型和妊娠失败。我们还总结了文献中报道的A4GALT基因变异。我们的研究结果为罕见p表型和相关RPL增加了更多基因变异信息。
Novel A4GALT Variants Cause Rare p Phenotype and Recurrent Pregnancy Loss in a Chinese Individual.
The rare p phenotype in the rare PP1Pk blood group system is closely associated with spontaneous first-trimester abortions. Studies have shown that variants in the A4GALT gene contribute to the p phenotype. Here, we report two novel compound heterozygous variants in the A4GALT gene in a Chinese woman with p phenotype and recurrent pregnancy loss. A 24-year-old woman with recurrent pregnancy loss was admitted to our department. She was confirmed to be anti-PP1Pk antibody-positive, with an IgG titer of 1:32. Whole-exome sequencing revealed the presence of two compound novel heterozygous variants c.370_371del and c.507C>G in the A4GALT gene, which contributed to the p phenotype and pregnancy loss in this woman. We also summarized the variants of the A4GALT gene reported in the literature. Our findings add more gene variant information on rare p phenotypes and related RPL.
期刊介绍：
The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts:
Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders.
Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .
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