在针对 GATA1 相关细胞减少症结合 HLA 匹配的植入前基因检测中,马赛克囊胚移植后健康活产。

IF 2.1 4区 医学 Q3 GENETICS & HEREDITY
Huiling Xu, Jiajie Pu, Zhengzhong Wu, Yulong Huang, Chanlin Han, Xuemei Li
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引用次数: 0

摘要

背景:GATA1相关细胞减少症(GRC)的特点是血小板减少和/或贫血,程度从轻微到严重不等。造血干细胞移植(HSCT)是GRC患者的治疗选择。我们在一名患有 GATA1 相关细胞减少症的男孩身上发现了一种新型致病变体(GATA1:c.1019delG)。然后,我们在这个 GRC 家庭中进行了胚胎植入前基因检测(PGT)。在移植了一个马赛克胚胎后,我们产下了一个健康且 HLA 符合的婴儿:病例介绍:原告是一名 6 岁男孩,从 3 岁起就被诊断患有输血依赖性贫血。全基因组测序(WES)结果显示,他的母亲遗传了GATA1的一个半杂合子变异c.1019delG。他的父母决定进行 PGT,以生育一个健康且 HLA 相容的后代。在对活检的滋养层(TE)细胞进行全基因组扩增(WGA)后,基于新一代测序(NGS)的 PGT 对胚胎进行了染色体非整倍体、目标突变和 HLA 分型分析。有 3 个胚胎与原告的 HLA 相匹配。这 3 个胚胎的基因型分别为杂合变异型、半杂合变异型和正常型。经过杂合、镶嵌部分三体(chr)16 和 HLA 匹配的胚胎移植后,一个健康的婴儿出生了,其造血干细胞移植与原告相符:结论:基于 NGS 的 PGT-HLA 是治疗由 GATA1 变体或其他血液病、肿瘤和免疫疾病引起的 GATA1 相关全血细胞减少症的重要方法。此外,我们的研究再次证实,马赛克胚胎移植将带来健康的后代。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A healthy live birth after mosaic blastocyst transfer in preimplantation genetic testing for GATA1-related cytopenia combined with HLA matching.

Background: GATA1-related cytopenia (GRC) is characterized by thrombocytopaenia and/or anaemia ranging from mild to severe. Haematopoietic stem cell transplantation (HSCT) is a healing therapeutic choice for GRC patients. We identified a novel pathogenic variant (GATA1: c.1019delG) in a boy with GATA1-related cytopenia. Then we performed preimplantation genetic testing (PGT) in this GRC family. After a mosaic embryo transfered, a healthy and HLA-compatible with the proband baby was delivered.

Case presentation: The proband is a 6-year-old boy who was diagnosed to have transfusion-dependent anaemia since 3 year old. Whole-exome sequencing (WES) showed that the proband has a hemizygous variant c.1019delG in GATA1, which is inherited from his mother. His parents decided to undergo PGT to have a health and HLA-compatible offspring. After whole genome amplification (WGA) of biopsied trophectoderm (TE) cells, next generation sequencing (NGS)-based PGT was preformed to analyse embryos on chromosomal aneuploidy, target mutation and HLA typing. There were 3 embryos HLA-matched to the proband. The genotypes of the 3 embryos were heterozygous variant, hemizygous variant, normal respectively. After a heterozygous, mosaic partial trisomy (chr)16, and HLA-matched embryo transfer, a healthy baby was delivered and whose HSCT is compatible with the proband.

Conclusions: NGS-based PGT-HLA is a valuable procedure for the treatment of GATA1-related cytopenia caused by GATA1 variants, or other haematological disorders, oncological and immunological diseases. Furthermore, our study reconfirms that mosaic embryos transfer would bring healthy offspring.

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来源期刊
BMC Medical Genomics
BMC Medical Genomics 医学-遗传学
CiteScore
3.90
自引率
0.00%
发文量
243
审稿时长
3.5 months
期刊介绍: BMC Medical Genomics is an open access journal publishing original peer-reviewed research articles in all aspects of functional genomics, genome structure, genome-scale population genetics, epigenomics, proteomics, systems analysis, and pharmacogenomics in relation to human health and disease.
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