A healthy live birth after mosaic blastocyst transfer in preimplantation genetic testing for GATA1-related cytopenia combined with HLA matching.

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

Abstract

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.

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。
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。
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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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