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- Title
Novo pathogenic variations of NLRP7 increasing the risk of gestational trophoblastic neoplasia.
- Authors
Tao, Chengqiu; Zhu, Tingting; Tang, Shuyan; Lu, Jiaqi; Lin, Xiaoqi; Li, Xiuqin; Liu, Xiaomei; Pang, Yicun; Zhao, Huan; Liang, Jie; Zhang, Feng; Lu, Xin; Zhang, Ling
- Abstract
Therefore, study expanded the genotype and phenotype of I NLRP7 i -related HM patients and provided more evidence that I NLRP7 i mutations could increase the risk of GTN. Notably, p.C221Lfs*13, p.Q472*, and p.P716S were novo mutations and the other mutations were rare mutations according to 1000 g, ExAC and gnomAD databases (Figure 1C). In a genotype-phenotype correlation study, we found that both I NLRP7 i missense mutations (27 alleles) and null mutations (27 alleles) contributed equally to the I NLRP7 i -related GTN patients.
- Subjects
GESTATIONAL trophoblastic disease; MOLAR pregnancy; MEDICAL genetics
- Publication
Clinical Genetics, 2023, Vol 103, Issue 4, p498
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.14288