Abstract:
PURPOSE:To perform complex preimplantation genetic tests (PGT) for aneuploidy screening, Robertsonian translocation, HLA-matching, and X-linked hyper IgM syndrome (XHIGM) caused by a novel mutation c.156 G>T of CD40LG gene. METHODS:Reverse transcription PCR (RT-PCR) and Sanger sequencing were carried out to confirm the causative variant of CD40LG gene in the proband and parents. Day 5 and D6 blastocysts, obtained by in vitro fertilization (IVF) with intracytoplasmic sperm injection, underwent trophectoderm (TE) biopsy and whole genomic amplification (WGA) and next generation sequencing (NGS)-based PGT to detect the presence of a maternal CD40LG mutation, aneuploidy, Robertsonian translocation carrier, and human leukocyte antigen (HLA) haplotype. RESULTS:Sanger sequencing data of the genomic DNA showed that the proband has a hemizygous variant of c. 156 G>T in the CD40LG gene, while his mother has a heterozygous variant at the same position. Complementary DNA (cDNA) of CD40LG amplification and sequencing displayed that no cDNA of CD40LG was found in proband, while only wild-type cDNA of CD40LG was amplified in the mother. PGT results showed that only one of the six tested embryos is free of the variant c.156 G>T and aneuploidy and having the consistent HLA type as the proband. Meanwhile, the embryo is a Robertsonian translocation carrier. The embryo was transplanted into the mother's uterus. Amniotic fluid testing results are consistent with that of PGT. A healthy baby girl was delivered, and the peripheral blood testing data was also consistent with the testing results of transplanted embryo. CONCLUSIONS:The novel mutation of c. 156 G>T in CD40LG gene probably leads to XHIGM by nonsense-meditated mRNA decay (NMD), and complex PGT of preimplantation genetic testing for monogenic disease (PGT-M), aneuploidy (PGT-A), structural rearrangement (PGT-SR), and HLA-matching (PGT-HLA) can be performed in pedigree with both X-linked hyper IgM syndrome and Robertsonian translocation.
journal_name
J Assist Reprod Genetjournal_title
Journal of assisted reproduction and geneticsauthors
Huang S,Niu Y,Li J,Gao M,Zhang Y,Yan J,Ma S,Gao X,Gao Ydoi
10.1007/s10815-020-01846-ysubject
Has Abstractpub_date
2020-08-01 00:00:00pages
2025-2031issue
8eissn
1058-0468issn
1573-7330pii
10.1007/s10815-020-01846-yjournal_volume
37pub_type
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更新日期:2015-01-01 00:00:00
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更新日期:2018-06-01 00:00:00
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pub_type: 杂志文章
doi:10.1007/BF02211143
更新日期:1995-08-01 00:00:00
abstract::Morphologic studies of the endometrium have demonstrated that varying the duration of an artificial follicular phase (AFP) in women with ovarian failure did not adversely affect its developmental capacity. The aim of this study was to evaluate whether such manipulations of endometrial stimulation could influence the p...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/BF01203817
更新日期:1992-06-01 00:00:00
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journal_title:Journal of assisted reproduction and genetics
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doi:10.1007/s10815-010-9453-0
更新日期:2010-11-01 00:00:00
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journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章,随机对照试验
doi:10.1007/s10815-007-9131-z
更新日期:2007-10-01 00:00:00
abstract:PURPOSE:To examine the efficacy of low-dose hCG using a GnRH antagonist protocol. METHODS:Prospective randomized study was performed at the Kyono Ladies Clinic. One hundred ninety-two women (<40 -years old, <3 previous cycles) were randomly assigned to GnRH agonist (buserelin) long protocol (LP, n = 66), GnRH antagoni...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章,随机对照试验
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更新日期:2006-05-01 00:00:00
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pub_type: 杂志文章
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更新日期:2007-01-01 00:00:00
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journal_title:Journal of assisted reproduction and genetics
pub_type: 临床试验,杂志文章,随机对照试验
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abstract:OBJECTIVE:Our purpose was to determine whether elevated progesterone (P) during ovulation induction in IVF-ET cycles is a poor prognostic factor for achieving pregnancy. DESIGN:We retrospectively reviewed 672 consecutive IVF-ET cycles in which ovulation was performed using luteal LA downregulation and hMG. SETTING:Th...
journal_title:Journal of assisted reproduction and genetics
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journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
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journal_title:Journal of assisted reproduction and genetics
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更新日期:2001-03-01 00:00:00
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journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-005-4922-6
更新日期:2005-05-01 00:00:00
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journal_title:Journal of assisted reproduction and genetics
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doi:10.1007/BF01213432
更新日期:1993-07-01 00:00:00
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journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-017-0998-z
更新日期:2017-11-01 00:00:00
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journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
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更新日期:2015-06-01 00:00:00
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journal_title:Journal of assisted reproduction and genetics
pub_type: 临床试验,杂志文章
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更新日期:2016-03-01 00:00:00
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journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章,已发布勘误
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更新日期:2018-02-01 00:00:00
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journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-015-0625-9
更新日期:2016-02-01 00:00:00
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journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章,评审
doi:10.1007/s10815-008-9206-5
更新日期:2008-02-01 00:00:00
abstract:: ...
journal_title:Journal of assisted reproduction and genetics
pub_type: 社论
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更新日期:2018-04-01 00:00:00
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journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1023/a:1022528915761
更新日期:1998-07-01 00:00:00
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journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1023/a:1009449926015
更新日期:2000-08-01 00:00:00
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pub_type: 杂志文章
doi:10.1007/s10815-018-1240-3
更新日期:2018-10-01 00:00:00