Mutation analysis in 46 British and Irish patients with Gaucher's disease
Willink Biochemical Genetics Unit, Royal Manchester
Children's Hospital
Correspondence to: Dr Alan Cooper, Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Hospital Road, Pendlebury, Manchester M27 4HA.
Accepted 18 March 1997
DNA from 46 unrelated patients with Gaucher's disease was
analysed for 10 known mutations: 84GG(c84 G 85ins), N370S (c1226G), L444P (c1448C), R463C (c1504T), R496H (c1604A), IVS2+1, D409H (c1342C),
RecNciI (c1448C-1498C), RecTL (c1342C-1498C), and c1263del (c1264-1318del). Fifty four mutations (90%) were identified in 30 patients with type I disease. These included a previously
undescribed recombinant mutation RecA456P (c1448C-1484C). Thirteen
(54%) of 24 type II alleles were identified, including one new point
mutation N462K (c1503G) and one new 55bp deletion also incorporating
the RecTL mutations c1263del+RecTL (c1264del-1498C). All four type III
patients were homozygous for the L444P point mutation. Generally, patients with one copy of the N370S mutation had mild adult onset disease, regardless of the nature of their second mutation. Three exceptions had childhood onset disease and genotypes N370S/R463C, N370S/RecA456P, and N370S/?. The L444P/L444P genotype was thought to be
associated with neurological disease. Two type I patients with this
genotype who exhibited no central nervous system disease were
identified, however. The R463C and c1263del mutations were found to be
present at a higher frequency than reported in other populations and
they should be included in any mutation screen of this population. The
recombinant mutations RecA456P and c1263del+RecTL have not been
previously described and are the fourth and fifth recombinant mutations
identified in the glucocerebrosidase gene.
© 1997 by Archives of Disease in Childhood
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