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Neurol Sci. 2015 Oct;36(10):1829-34. doi: 10.1007/s10072-015-2263-5. Epub 2015 May 28.

Genetic findings of Cypriot spinal muscular atrophy patients.

Author information

1
Neurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
2
Cyprus School of Molecular Medicine, Nicosia, Cyprus.
3
Clinical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
4
Paediatrics Department, Makarios Hospital, Nicosia, Cyprus.
5
Neurology Clinic A, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
6
Neurology Clinic D, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
7
Neurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. roula@cing.ac.cy.
8
Cyprus School of Molecular Medicine, Nicosia, Cyprus. roula@cing.ac.cy.

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.

KEYWORDS:

De novo mutation; GTF2H2; Genotype–phenotype analysis; NAIP; SMA; SMN1

PMID:
26017350
DOI:
10.1007/s10072-015-2263-5
[Indexed for MEDLINE]

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