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Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant.
  1. M G Ribeiro,
  2. T Sonin,
  3. R A Pinto,
  4. A Fontes,
  5. H Ribeiro,
  6. E Pinto,
  7. M M Palmeira,
  8. M C Sá Miranda
  1. Instituto de Genética Médica Jacinto de Magalhães, Unidade de Enzimologia, Porto, Portugal.


    Mutations in the hexosaminidase A gene (HEXA) causing the B1 variant of GM2-gangliosidosis result in the presence of a mutant enzyme protein with a catalytically defective alpha subunit. A rare and panethnically distributed mutation, transition G533A (Arg178His), is known to be a common allele among Portuguese patients with the subacute phenotype. We now report the presence of an Arg178His allele in three Portuguese sibs with a chronic form of the disease, who carry the transition G755A (Arg252His) on the second allele. This novel mutation is the first B1 allele to be associated with an adult phenotype.

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