title: Genetic findings of Cypriot spinal muscular atrophy patients.
abstract: Spinal muscular atrophy (SMA) is an autosomal recessive, neurodegenerative disorder characterised commonly by proximal muscle weakness and wasting in the absence of sensory signs. Deletion or disruption of the SMN1 gene causes the disease. The SMN1 gene is located within an inverted duplication on chromosome 5q13 with the genes SMN2, NAIP and GTF2H2. MLPA analysis of 13 Cypriot SMA patients revealed that, 12 patients carried a homozygous SMN1 gene deletion and one patient carried two copies of the SMN1 gene. Two of 13 cases were a consequence of a paternally originating de novo mutation. Five genotypes were identified within the population, with the most frequent being a homozygous SMN1 and NAIP genes deletion. In conclusion, genotype-phenotype correlation revealed that SMN2 is inversely related to disease severity and that NAIP and GTF2H2 act as negative modifiers. This study provided, for the first time, a comprehensive overview of gene copy numbers and inheritance patterns within Cypriot SMA families.
authors.affiliation: Neurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
authors.forename: L
authors.initials: L
authors.lastname: Theodorou
authors.affiliation: Neurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.|Cyprus School of Molecular Medicine, Nicosia, Cyprus.
authors.forename: P
authors.initials: P
authors.lastname: Nicolaou
authors.affiliation: Neurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
authors.forename: P
authors.initials: P
authors.lastname: Koutsou
authors.affiliation: Neurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
authors.forename: A
authors.initials: A
authors.lastname: Georghiou
authors.affiliation: Cyprus School of Molecular Medicine, Nicosia, Cyprus.|Clinical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.|Paediatrics Department, Makarios Hospital, Nicosia, Cyprus.
authors.forename: V
authors.initials: V
authors.lastname: Anastasiadou
authors.affiliation: Cyprus School of Molecular Medicine, Nicosia, Cyprus.|Clinical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
authors.forename: G
authors.initials: G
authors.lastname: Tanteles
authors.affiliation: Cyprus School of Molecular Medicine, Nicosia, Cyprus.|Neurology Clinic A, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
authors.forename: T
authors.initials: T
authors.lastname: Kyriakides
authors.affiliation: Cyprus School of Molecular Medicine, Nicosia, Cyprus.|Neurology Clinic D, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
authors.forename: E
authors.initials: E
authors.lastname: Zamba-Papanicolaou
authors.affiliation: Neurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. roula@cing.ac.cy.|Cyprus School of Molecular Medicine, Nicosia, Cyprus. roula@cing.ac.cy.
authors.forename: K
authors.initials: K
authors.lastname: Christodoulou
mesh_terms: D003535:Cyprus; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D018628:Gene Dosage; D056726:Genetic Association Studies; D006801:Humans; D040582:Inheritance Patterns; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation; D010375:Pedigree; D014897:Spinal Muscular Atrophies of Childhood / Q000235:genetics*; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics
chemical_list: C526471:SMN1 protein, human; D055533:Survival of Motor Neuron 1 Protein
keywords: De novo mutation; GTF2H2; Genotype–phenotype analysis; NAIP; SMA; SMN1