Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series

Abstract

This study aims to ascertain the genetic variants which contribute to the most common types of MPS in eleven Iranian families. Clinical and biochemical features were obtained during initial examination and patients were further investigated for genetic defects in the MPS genes. Peripheral blood samples were obtained from all family members after obtaining written informed consent. Based on the patient's clinical diagnosis, three different genetic tests including Sanger sequencing of four genes (IDUA, IDS, SGSH, and GALNS), targeted panel (10 genes) and Whole Exome Sequencing (WES) techniques were applied to identify the causative variants. A total of 12 different mutations were identified in five genes, including nine novel mutations and three previously reported missense mutations. Sanger sequencing confirmation of the identified mutations determined one case of compound heterozygous in the NAGLU gene. In this study, novel mutations in MPS related genes were identified attempting to characterize the type and subtype of the disease using molecular approaches. Results of the study positively contribute to mutation spectrum of IDUA, IDS, SGSH, NAGLU, and GALNS genes in the Iranian cohort. It may also enrich genetic counseling for rapid risk assessment and disease management.