Presented by

Dr. Alice Abdel Aleem

Building the clinical and genetic databases for genetic muscle diseases in Qatar was of our PPM1 grant’s main goals. Through the QF-funded PPM1 grant, 267 subjects have been enrolled: 222 subjects’ recruited and 45 patients’ data collected from the medical records of HMC-Cerner system. Of the 267 subjects, 127 were patients and 140 are unaffected family members. All recruitment were at HMC-site. Clinical data collection & data entry for NMDs patients has been completed for 124 of the 127 patients (3 patients removed from the clinical database due to a confirmed genetic diagnosis of a central disease associated with muscle weakness rather than primary muscular diseases). The 124 patients were derived from 104 families of 18 different ethnicity; the percent distribution of three main ethnic group were: 54% Qatari patients, 28% Arab-non Qatari and 18% as non-Arab. The Arab-non Qatari families involved 10 ethnicities and the non-Arab families involved 7 ethnicities. Ethnic origin of the 104 families distributed over 6 subcontinent; 69%from West Asian , 13% South Asian, 11% North Africa, 4% subsarahan African, 2% south east Asian, and 1% Western European.We categorized the NMDs in our patients’ cohort into 9 main clinical groups, as per the genetic findings, with the congenital muscular dystrophy, CMD, the most prevalent group. Genetic analysis of 118 NMDs patients, applying WGS, has successfully identified the disease’ causing genes in 95 patients. The causative genes remained yet unidentified in 23 patients. The concluded detection rate in our cohort was 81%. Two founder recessively inherited mutations, in LAMA2 and SCGA genes were identified in Qatari patients. Details of the distribution of mutated genes and variants’ inheritance/ classification will be presented. Our study identified 58 of 1317 protein markers significantly altered in all patients as compared to the healthy control, applying the Aptamer-based Somologic large scale screening. 73 of 1317 markers were significantly altered in a selected subgroup of LAMA2 related congenital muscular dystrophy. There were 32 proteins in common between all cases and the subgroup. Of these 32 proteins, 21 markers have been shown to replicate in another published international Duchenne Muscle Dystrophy-related study which gives a high reliability of our results.