Abstract:
AIM:This study aimed to clarify the genetic and epigenetic features of recurrent hydatidiform mole (RHM) in Japanese patients. METHODS:Four Japanese isolated RHM cases were analyzed using whole-exome sequencing. Villi from RHMs were collected by laser microdissection for genotyping and DNA methylation assay of differentially methylated regions (DMRs). Single nucleotide polymorphisms of PEG3 and H19 DMRs were used to confirm the parental origin of the variants. RESULTS:A novel homozygous nonsense mutation in NLRP7 (c.584G>A; p.W195X) was identified in 1 patient. Genotyping of one of her molar tissue revealed that it was biparental but not androgenetic in origin. Despite the fact that the RHM is biparental, maternally methylated DMRs of PEG3, SNRPN and PEG10 showed complete loss of DNA methylation. A paternally methylated DMR of H19 retained normal methylation. CONCLUSIONS:This is the first Japanese case of RHM with a novel homozygous nonsense NLRP7 mutation and a specific loss of maternal DNA methylation of DMRs. Notably, the mutation was identified in an isolated case of an ethnic background that has not previously been studied in this context. Our data underscore the involvement of NLRP7 in RHM pathophysiology and confirm that DNA methylation of specific regions is critical.
journal_name
Gynecol Obstet Investjournal_title
Gynecologic and obstetric investigationauthors
Ito Y,Maehara K,Kaneki E,Matsuoka K,Sugahara N,Miyata T,Kamura H,Yamaguchi Y,Kono A,Nakabayashi K,Migita O,Higashimoto K,Soejima H,Okamoto A,Nakamura H,Kimura T,Wake N,Taniguchi T,Hata Kdoi
10.1159/000441780subject
Has Abstractpub_date
2016-01-01 00:00:00pages
353-8issue
4eissn
0378-7346issn
1423-002Xpii
000441780journal_volume
81pub_type
杂志文章abstract::In a prospective clinical investigation of 2,144 deliveries, we elucidate the indications for episiotomy and how different methods of anesthesia affect the frequency of episiotomy and the perineal problems after episiotomy compared with those after spontaneous perineal laceration. We found a significantly higher infec...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000293161
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journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章,多中心研究
doi:10.1159/000297507
更新日期:2010-01-01 00:00:00
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journal_title:Gynecologic and obstetric investigation
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doi:10.1159/000300975
更新日期:1978-01-01 00:00:00
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journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000072082
更新日期:2003-01-01 00:00:00
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journal_title:Gynecologic and obstetric investigation
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doi:10.1159/000074103
更新日期:2003-01-01 00:00:00
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journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000299030
更新日期:1985-01-01 00:00:00
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journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000291977
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journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章,评审
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journal_title:Gynecologic and obstetric investigation
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pub_type: 杂志文章
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journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000292401
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journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000294838
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journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章,评审
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journal_title:Gynecologic and obstetric investigation
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1159/000010080
更新日期:1999-01-01 00:00:00
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journal_title:Gynecologic and obstetric investigation
pub_type: 临床试验,杂志文章
doi:10.1159/000292274
更新日期:1996-01-01 00:00:00
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journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000010158
更新日期:1999-01-01 00:00:00
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journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章,meta分析,评审
doi:10.1159/000089011
更新日期:2006-01-01 00:00:00
abstract:BACKGROUND/AIMS:To evaluate the degree of pain during and after office hysteroscopy with combined intracervical and intrauterine anesthesia compared to intracervical anesthesia only. METHODS:We evaluated the amount of pain experienced during office hysteroscopy using combined local intracervical and intrauterine anest...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000252957
更新日期:2010-01-01 00:00:00
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journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000049412
更新日期:2002-01-01 00:00:00
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journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000299390
更新日期:1983-01-01 00:00:00
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journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000293314
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abstract::Severe fetal distress was produced in 16 fetal dogs by successive and/or prolonged occlusion of the maternal abdominal aorta in an acute surgical preparation, and was characterized in fetal arterial blood of 7.06 for pH, 10 mm Hg for O2, 127 mm Hg for CO2, and fetal heart rate decelerations. Five fetuses recovered spo...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000294837
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journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000298834
更新日期:1987-01-01 00:00:00
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journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000067718
更新日期:2002-01-01 00:00:00
abstract::A solitary peritoneal metastasis from a poorly differentiated adenocarcinoma of unknown origin in a 38-year-old female is described. The patient presented with a left ovarian tumor and elevated cancer antigen 125. She underwent complete excision of tumor and received six courses of postoperatively adjuvant cisplatin-b...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000291858
更新日期:1997-01-01 00:00:00
abstract::In an acute fetal lamb model the relation between arterial PCO2 (PaCO2), transcutaneous PCO2 (tcPCO2) and pH was studied at different conditions of stress. Occlusion of the maternal common iliac artery for 8 min, umbilical cord obstruction for 5 min and placental embolization were performed subsequently, every time wi...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000291808
更新日期:1997-01-01 00:00:00
abstract:BACKGROUND:Immunological deficiencies, altered angiogenic activity, infiltrative potential and growth factors are plausible factors behind endometriosis. The aim of this study was to determine whether endometriosis interferes with the course or outcome of pregnancy. STUDY DESIGN:In this matched case-control study, we ...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000074815
更新日期:2003-01-01 00:00:00
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journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000446949
更新日期:2017-01-01 00:00:00
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journal_title:Gynecologic and obstetric investigation
pub_type: 临床试验,杂志文章
doi:10.1159/000082652
更新日期:2005-01-01 00:00:00
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journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000358389
更新日期:2014-01-01 00:00:00