Linkage mapping of the spinal muscular atrophy gene

Arthur H.M. Burghes, Susan E. Ingraham, Zsofia Kóte-Jarai, Scott Rosenfeld, Nancy Herta, Nitin Nadkarni, Christine J. DiDonato, John Carpten, Orest Hurko, Julaine Florence, Richard T. Moxley, Jan M. Cobben, Jerry R. Mendell

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48 Scopus citations


Spinal muscular atrophy (SMA) is a common autosomal recessive disorder resulting in loss of motor neurons. We have performed linkage analysis on a panel of families using nine markers that are closely linked to the SMA gene. The highest lod score was obtained with the marker D5S351 (Zmax = 10.04 at θ = 0 excluding two unlinked families, and Zmax = 8.77 at θ = 0.007 with all families). One type III family did not show linkage to the 5q13 markers, and in one type I consanguineous family the affected individual did not show homozygosity except for the marker D5S435. Three recombinants were identified with the closest centromeric marker, D5S435, which position the gene telomeric of this marker. These recombinants will facilitate finer mapping of the location of the SMA gene. Lastly, two families provide strong evidence for a remarkable variability in presentation of the SMA phenotype, with the age at onset in one family varying from 17 months to 13 years.

Original languageEnglish
Pages (from-to)305-312
Number of pages8
JournalHuman genetics
Issue number3
StatePublished - Mar 1 1994


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