De novo and inherited deletions of the 5q13 region in spinal muscular atrophies

Judith Melki, Suzie Lefebvre, Lydie Burglen, Philippe Burlet, Olivier Clermont, Philippe Millasseau, Sophie Reboullet, Bernard Bénichou, Massimo Zeviani, Denis Le Paslier, Daniel Cohen, Jean Weissenbach, Arnold Munnich

Research output: Contribution to journalArticlepeer-review


Spinal muscular atrophies (SMAs) represent the second most common fatal autosomal recessive disorder after cystic fibrosis. Childhood spinal muscular atrophies are divided into severe (type I) and mild forms (types II and III). By a combination of genetic and physical mapping, a yeast artificial chromosome contig of the 5q13 region spanning the disease locus was constructed that showed the presence of low copy repeats in this region. Allele segregation was analyzed at the closest genetic loci detected by markers C212 and C272 in 201 SMA families. Inherited and de novo deletions were observed in nine unrelated SMA patients. Moreover, deletions were strongly suggested in at least 18 percent of SMA type I patients by the observation of marked heterozygosity deficiency for the loci studied. These results indicate that deletion events are statistically associated with the severe form of spinal muscular atrophy.

Original languageEnglish
Pages (from-to)1474-1477
Number of pages4
Issue number5164
Publication statusPublished - Jun 3 1994

ASJC Scopus subject areas

  • General


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