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 ∼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.
Original language | English (US) |
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Pages (from-to) | 56-62 |
Number of pages | 7 |
Journal | Nature Genetics |
Volume | 9 |
Issue number | 1 |
DOIs | |
State | Published - Jan 1995 |
Funding
ASJC Scopus subject areas
- Genetics