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IntroductionSpinal Muscular atrophy (SMA) is an inherited, neuromuscular disease which is characterized by the deterioration of spinal motor neurons, causing progressive muscular atrophy and weakening. It is an autosomal recessive disease with the absence or mutation of the survival motor neuron 1 (SMN1) gene as a hallmark; and SMN2 gene modulates the severity of the disease. SMA has been classified based on the motor function achieved. This study aims at describing the genetic makeup and characteristics of an SMA cohort in the Kingdom of Saudi Arabia (KSA).MethodsData from families presenting with SMA children was collected between (January 2018 till December 2020). Blood samples were collected from patients and family members. Genetic testing for SMA and mutations were performed at a central lab in Europe.Results and discussion17 families were enrolled in the study including 52 children. Among the 34 parents, 28 were carriers with heterozygous deletion (82.3%), 1(2.9%) had no deletion detected by MLPA but had point mutation by sequencing, 1(2.9%) had homozygous deletion and was symptomatic, 3(8.8%) had no deletion or point mutation and presumed to have 2 + 0, and 1 (2.9%) was not tested.ConclusionThis study provides insight on the carrier mutational analysis of parents’ of SMA patients, Further studies are needed to understand the burden of SMA in the KSA. |
