biostudies-literatureUnknown59(1)Ajmal M<i>Background and Objectives</i>: Hereditary multiple exostoses (HME) is a disease characterized by cartilage-capped bony protuberances at the site of growth plates of long bones. Functional mutations in the exostosin genes (<i>EXT1</i> and <i>EXT2</i>) are reported to affect the hedgehog signalling pathways leading to multiple enchondromatosis. However, the exact role of each EXT protein in the regulation of heparan sulphate (HS) chain elongation is still an enigma. In this study, a Pakistani family with HME is investigated to find out the genetic basis of the disease. <i>Materials and Methods</i>: Genotyping of eight members of the family by amplifying microsatellite markers, tightly linked to the <i>EXT1</i> and <i>EXT2</i> genes. <i>Results</i>: The study revealed linkage of the HME faMedicina (Kaunas, Lithuania)100https://www.ebi.ac.uk/biostudies/studies/S-EPMC9863873biostudies-literatureHaploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family.PMC9863873Nasir MShoaib MAjmal MUllah IMuhammad HMalik SAfalseHaploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family.<i>Background and Objectives</i>: Hereditary multiple exostoses (HME) is a disease characterized by cartilage-capped bony protuberances at the site of growth plates of long bones. Functional mutations in the exostosin genes (<i>EXT1</i> and <i>EXT2</i>) are reported to affect the hedgehog signalling pathways leading to multiple enchondromatosis. However, the exact role of each EXT protein in the regulation of heparan sulphate (HS) chain elongation is still an enigma. In this study, a Pakistani family with HME is investigated to find out the genetic basis of the disease. <i>Materials and Methods</i>: Genotyping of eight members of the family by amplifying microsatellite markers, tightly linked to the <i>EXT1</i> and <i>EXT2</i> genes. <i>Results</i>: The study revealed linkage of the HME fa2022-01-01T00:00:00Z2022 Dec2025-04-04T10:20:04.575Z2025-02-19T00:12:44.467ZS-EPMC98638733667672210.3390/medicina59010100