title: Spinal muscular atrophy carrier frequency and estimated prevalence of the disease in Moroccan newborns.
abstract: Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases caused by homozygous deletion of exon 7 of the survival motor neuron 1 (SMN1) gene in approximately 95% of SMA patients. Carrier frequency studies of SMA have been reported for various populations. The aim of our study was to estimate the carrier frequency of the common SMN1 exon 7 deletion in the Moroccan population to achieve an insight into the prevalence of SMA in Morocco. In this study, we used a reliable quantitative real-time polymerase chain reaction assay with SYBR Green I dye to determine the copy number of the SMN1 gene. Analysis of 150 Moroccan newborns predicts a carrier frequency of approximately 1:25, which would mean a calculated SMA prevalence of 1:1800 after correction due to consanguinity. These results show as expected that the SMA carrier frequency in Morocco is higher than in the European populations and is close to those of Middle Eastern countries. Genetic carrier testing for genetic counseling should be recommended particularly to families with a clear clinical history of SMA.
authors.affiliation: Centre de Génomique Humaine, Faculté de Médecine et Pharmacie, Université Mohamed V Souissi, Rabat, Morocco. jaber.lyahyai@gmail.com
authors.forename: Jaber
authors.initials: J
authors.lastname: Lyahyai
authors.forename: Aziza
authors.initials: A
authors.lastname: Sbiti
authors.forename: Amina
authors.initials: A
authors.lastname: Barkat
authors.forename: Ilham
authors.initials: I
authors.lastname: Ratbi
authors.forename: Abdelaziz
authors.initials: A
authors.lastname: Sefiani
mesh_terms: D052160:Benzothiazoles; D003959:Diamines; D005091:Exons / Q000235:genetics; D017353:Gene Deletion; D018628:Gene Dosage; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D009018:Morocco / Q000453:epidemiology; D009134:Muscular Atrophy, Spinal / Q000453:epidemiology* / Q000235:genetics; D009154:Mutation; D009930:Organic Chemicals; D015995:Prevalence; D011804:Quinolines; D060888:Real-Time Polymerase Chain Reaction; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics*
chemical_list: D052160:Benzothiazoles; D003959:Diamines; D009930:Organic Chemicals; D011804:Quinolines; C526471:SMN1 protein, human; D055533:Survival of Motor Neuron 1 Protein; C098022:SYBR Green I