Article
Biallelic Mutations in P4HTM Cause Syndromic Obesity.
Diabetes - 1 Sept 2023
Saeed Sadia, Ning Lijiao, Badreddine Alaa, Mirza Muhammad Usman, Boissel Mathilde, Khanam Roohia, Manzoor Jaida, Janjua Qasim M, Khan Waqas I, Toussaint Bénédicte, Vaillant Emmanuel, Amanzougarene Souhila, Derhourhi Mehdi, Trant John F, Siegert Anna-Maria, Lam Brian Y H, Yeo Giles S H, Chabraoui Layachi, Touzani Asmae, Kulkarni Abhishek, Farooqi I Sadaf, Bonnefond Amélie, Arslan Muhammad, Froguel Philippe
Abstract excerpt
We previously demonstrated that 50% of children with obesity from consanguineous families from Pakistan carry pathogenic variants in known monogenic obesity genes. Here, we have discovered a novel monogenetic recessive form of severe childhood obesity using an in-house computational staged approach. The analysis included whole-exome sequencing data of 366 children with severe obesity, 1,000 individuals of the...
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