Genes, Vol. 11, Pages 1361: Segregation Analysis of Rare NRP1 and NRP2 Variants in Families with Lymphedema

This study focuses on identifying rare variants in the NRP1 and NRP2 genes that could be linked to the development of lymphatic malformations in patients diagnosed with lymphedema. Two hundred and thirty-five Italian lymphedema patients, who tested negative for variants in known lymphedema genes, were screened for variants in NRP1 and NRP2. Two probands carried variants in NRP1 and four in NRP2. The variants of both genes segregated with lymphedema in familial cases. Although further functional and biochemical studies are needed to clarify their involvement with lymphedema and to associate NRP1 and NRP2 with lymphedema, we suggest that it is worthwhile also screening lymphedema patients for these two new candidate genes.

Source: Genes - November 17, 2020 Category: Genetics & Stem Cells Authors: Sandro Michelini Bruno Amato Maurizio Ricci Sercan Kenanoglu Dominika Veselenyiova Danjela Kurti Mirko Baglivo Elena Manara Munis Dundar Juraj Krajcovic Syed Hussain Basha Sasi Priya Roberta Serrani Giacinto A. D. Miggiano Barbara Aquilanti Giuseppina Mat Tags: Article Source Type: research