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Spinal muscular atrophy is not the result of mutations at the beta-hexosaminidase or GM₂-activator locus

Departments of Psychiatry, Neurology, and Genetics and Development, Columbia University, and New York State Psychiatric Institute (Drs. Kleyn, Brzustowicz, Wilhelmsen, and Freimer, J.M. Miller, and Dr. Gilliam), New York, NY; and Department of Neurology (Dr. Munsat), Tufts University, New England Medical Center, Boston, MA.

The disease locus for the clinically heterogeneous childhood spinal muscular atrophies (SMA) maps to the chromosome 5 subregion, 5q11.2–13.3. The beta-subunit of beta-D-N-acetylhexosaminidase (hexosaminidase) (EC 3.2.1.52) (Hex B) maps to the same region, and the protein required for substrate recognition by this enzyme, GM₂-activator protein, likewise maps to chromosome 5. We have investigated the possibility of allelic variation among some forms of SMA and hexosaminidase deficiency. Recombination between the Hex B and SMA loci eliminates this enzyme as a candidate site for defects causing the illness. Furthermore, we show that, despite previous evidence to the contrary, the GM₂-activator locus does not map to chromosome 5, thereby eliminating it as a candidate gene for SMA.

Address correspondence and reprint requests to Dr. T.C. Gilliam, Department of Psychiatry, College of Physicians & Surgeons of Columbia University, 722 West 168th Street, New York, NY 10032.

Received January 29, 1991. Accepted for publication in final form February 21, 1991.

T.C.G. was supported with grants from the Muscular Dystrophy Association and the W.M. Keck Foundation, and NIH grant R01 NS28877. P.W.K. and L.B. are W.M. Keck Foundation Scholars.