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Literature DB >> 7704025

A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients.

T G Thompson¹, C J DiDonato, L R Simard, S E Ingraham, A H Burghes, T O Crawford, C Rochette, J R Mendell, J J Wasmuth.

Abstract

Spinal muscular atrophy (SMA) is the second most common lethal, autosomal recessive disease in Caucasians (after cystic fibrosis). Childhood SMAs are divided into three groups (type I, II and III), which are allelic variants of the same locus in a region of approximately 850 kb in chromosome 5q12-q13, containing multiple copies of a novel, chromosome 5-specific repeat as well as many atypical pseudogenes. This has hampered the identification of candidate genes. We have identified several coding sequences unique to the SMA region. A genomic fragment detected by one cDNA is homozygously deleted in 17/29 (58%) of type I SMA patients. Of 235 unaffected individuals examined, only two showed the deletion and both are carriers of SMA. Our results suggest that deletion of at least part of this novel gene is directly related to the phenotype of SMA.

Entities: Disease Species

Mesh：

Substances：
DNA, Complementary

Year: 1995 PMID： 7704025 DOI： 10.1038/ng0195-56

Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330

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Cited

21 in total

1. Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos.

Authors: B Schrank; R Götz; J M Gunnersen; J M Ure; K V Toyka; A G Smith; M Sendtner
Journal: Proc Natl Acad Sci U S A Date: 1997-09-02 Impact factor: 11.205

10. Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis.

Authors: D W Parsons; P E McAndrew; P S Allinson; W D Parker; A H Burghes; T W Prior
Journal: J Med Genet Date: 1998-08 Impact factor: 6.318

A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients.

1. Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos.

Review 2. TDP-43 aggregation in neurodegeneration: are stress granules the key?

Review 3. Applicability of histone deacetylase inhibition for the treatment of spinal muscular atrophy.

4. Mapping of a human rRNA gene in the YAC contig surrounding the SMA candidate gene.

Review 5. Molecular genetics of autosomal recessive spinal muscular atrophy.

6. Composite exon structure of an unusual Ig lambda-like gene located at human 22q11 position.

7. Gene deletions in spinal muscular atrophy.

8. Deletions in the survival motor neuron gene in Turkish spinal muscular atrophy patients.

9. Molecular diagnosis of spinal muscular atrophy.

10. Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis.