title: [Family pedigree analysis in family member with history of hydatidiform mole and the NLRP7 gene expression].
abstract: OBJECTIVE
  To evaluate the NLRP7 gene mutations and variants and their expression of genetic approach in hydatidiform mole patients with family history.
  
  
  METHODS
  Six cases of mole patients with family members of mole history and 60 healthy women, taking blood, extracting DNA, the genetic mutation on NLRP7 screening and analysis, looking for mutations and corresponding amino acids, proteins control gene mutation found NLRP7 area.
  
  
  RESULTS
  In 6 mole patients with family history: three patients were with sister's history of mole, and 2 of them familial recurrent hydatidiform mole (from family MoCh76 and family Ch77), there are 2 loci NLRP7 gene mutation. Screening patients from family MoCh76 for mutations in NLRP7 revealed in exon 3 and exon 5, amino acids [295G > T] and [1970A > T], proteins [Glu99X] and [Asp657Val], in a heterozygous. Screening patients from family Ch77 for mutations in NLRP7 revealed in exon 4 and exon 7, amino acids [1294C > T] and [2471 + 1G > A], proteins [Arg432X] and [Leu825X], in a heterozygous. Screening patients from family 105 for mutations in NLRP7 revealed no NLRP7 gene mutation. There were mother's history of mole in three patients, and they were not familial recurrent hydatidiform mole. Screening patients from family MoCh73 for mutations in NLRP7 revealed in exon 4, amino acids [1137G > C], proteins [Lys379Asn], in a heterozygous. Screening patients from family 106 and family 110 for mutations in NLRP7 revealed no NLRP7 gene mutation. There were not found mutations and variations in 60 cases of ethnic matched control group.
  
  
  CONCLUSIONS
  NLRP7 mutations may be lead to familial recurrent hydatidiform mole.
authors.affiliation: Department of Obstetrics and Gynaecology, Women's Hospital, School of Medicine, Zhejiang University, Zhejiang 310006, China.
authors.forename: Yong
authors.initials: Y
authors.lastname: Li
authors.forename: Qi
authors.initials: Q
authors.lastname: Cheng
authors.forename: Jian-hua
authors.initials: JH
authors.lastname: Qian
authors.forename: Wei
authors.initials: W
authors.lastname: Zhou
authors.forename: Xing
authors.initials: X
authors.lastname: Xie
authors.forename: Rima
authors.initials: R
authors.lastname: Slim
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics* / Q000378:metabolism; D000328:Adult; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D015870:Gene Expression; D006801:Humans; D006828:Hydatidiform Mole / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D012008:Recurrence; D014594:Uterine Neoplasms / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing