Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia.

Bakground: Hereditary Spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of degenerative disorders characterized by progressive spasticity and weakness of the lower limbs. This study aimed to identify causative gene variants in two unrelated consanguineous Pakistani families presented with 2 different forms of HSP.

Methods: Whole exome sequencing (WES) was performed in the two families and variants were validated by Sanger sequencing and segregation analysis.

Screening of cardiometabolic risks clustering in young Pakistani adults classified by anthropometric traits.

Objective: To estimate frequencies of metabolic risk phenotypes and their associations in body mass index and waist circumference-based obesity categories.

Methods: The cross-sectional study was conducted at Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan, from August 2014 to March 2016. Anthropometric and clinical data of young adults was collected.