Ontology highlight
ABSTRACT:
SUBMITTER: Rezaei M
PROVIDER: S-EPMC5007383 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Rezaei Maryam M Nguyen Ngoc Minh Phuong NM Foroughinia Leila L Dash Pratima P Ahmadpour Fatemeh F Verma Ishwar Chandra IC Slim Rima R Fardaei Majid M
Human genome variation 20160901
Recurrent hydatidiform mole (RHM) is defined by the occurrence of repeated molar pregnancies in affected women. Two genes, NLRP7 and KHDC3L, play a causal role in RHM and are responsible for 48-80% and 5% of cases, respectively. Here, we report the results of screening these two genes for mutations in one Iranian and one Indian patient with RHM. No mutations in NLRP7 were identified in the two patients. KHDC3L sequencing identified two novel protein-truncating mutations in a homozygous state, a ...[more]