Ontology highlight
ABSTRACT:
SUBMITTER: Reddy R
PROVIDER: S-EPMC5027696 | biostudies-literature | 2016 Oct
REPOSITORIES: biostudies-literature
Reddy Ramesh R Nguyen Ngoc M P NM Sarrabay Guillaume G Rezaei Maryam M Rivas Mayra C G MC Kavasoglu Aysenur A Berkil Hakan H Elshafey Alaa A Abdalla Ebtesam E Nunez Kristin P KP Dreyfus Hélène H Philippe Merviel M Hadipour Zahra Z Durmaz Asude A Eaton Erin E EE Schubert Brittany B Ulker Volkan V Hadipour Fatemeh F Ahmadpour Fatemeh F Touitou Isabelle I Fardaei Majid M Slim Rima R
European journal of human genetics : EJHG 20160309 10
NLRP7 is a major gene responsible for recurrent hydatidiform moles. Here, we report 11 novel NLRP7 protein truncating variants, of which five deletions of more than 1-kb. We analyzed the transcriptional consequences of four variants. We demonstrate that one large homozygous deletion removes NLRP7 transcription start site and results in the complete absence of its transcripts in a patient in good health besides her reproductive problem. This observation strengthens existing data on the requiremen ...[more]