title: Molecular diagnosis of spinal muscular atrophy in Egyptians.
abstract: This study was carried out with 33 spinal muscular atrophy (SMA) patients. DNA molecular studies of the SMA gene on the long arm of chromosome 5 (5q11.2q13.3) revealed homozygous deletion of exon 7 in 55% of cases, 36% of whom also had a homozygous delition of exon 8. The adult patients were heterozygous for an abnormal size exon 8. The remaining patients had either compound heterozygote deletion of exons 7 and 8 or were normal for both. There may therefore be 5q-unlinked SMA or SMA due to other mutations. Detection of deletions of SMA exons 7 and 8 is a powerful diagnostic test in patients with SMA, but other mutations among Egyptians must also be sought.
authors.affiliation: Department of Genetics, University of Ain Shams, Cairo, Egypt.
authors.forename: R M
authors.initials: RM
authors.lastname: Shawky
authors.forename: K
authors.initials: K
authors.lastname: Abd el-Aleem
authors.forename: M M
authors.initials: MM
authors.lastname: Rifaat
authors.forename: A
authors.initials: A
authors.lastname: Moustafa
mesh_terms: D000328:Adult; D017668:Age of Onset; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D003241:Consanguinity; D004252:DNA Mutational Analysis / Q000379:methods*; D018450:Disease Progression; D004534:Egypt / Q000453:epidemiology; D005260:Female; D017353:Gene Deletion; D005820:Genetic Testing; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000145:classification / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D010641:Phenotype; D012720:Severity of Illness Index