Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)

Clinical Genetics - Tập 20 Số 2 - Trang 152-160 - 1981
J. J. P. van de Kamp1, M. F. Niermeijer2, Kurt Von Figura3, M. A. H. Giesberts1
1Department of Pediatrics, University Hospital, Leiden
2Dept of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
3Institute of Physiological Chemistry, University of Münster, Federal Republic of Germany

Tóm tắt

A study of 73 patients with the Sanfilippo syndrome (36 patients with Sanfilippo A disease, 23 with Sanfilippo B disease and 14 with Sanfilippo C disease) revealed both intertype and intratype variability. The course of the disease was relatively mild in Sanfilippo B disease and dementia was less severe. Type A showed earlier onset with more severe clinical manifestations and an earlier age at death. Sanfilippo C disease was slightly less severe than Sanfilippo A disease. The intratype variability may be explained in part by differences in genetic and environmental background. In Sanfilippo B disease, genetic heterogeneity is suggested by the observation of a more severe and a mild variant, and this variation may be due to the involvement of different allelic mutations. The intra‐familial variability of the different types was small, but in three families with Sanfilippo B disease intrafamilial variability was evident.

Từ khóa


Tài liệu tham khảo

10.1111/j.1399-0004.1979.tb00832.x

10.1007/BF00441361

Farriaux J. P., 1974, Etude comparative des aspects cliniques, radiologiques, biochimiques et génétiques de la maladie de Sanfilippo de type A et de type B. A propos de 6 observations, Helv. Paediat. Acta., 29, 349

10.1016/S0006-291X(72)80044-5

Figura K., 1980, Lysosomes and Lysosomal Storage Diseases

Kamp J. J. P.van de(1979).The Sanfilippo syndrome A clinical and genetical study of 75 patients in the Netherlands.Thesis Leiden.

10.1111/j.1399-0004.1976.tb00049.x

10.1073/pnas.75.10.5185

10.1016/0006-291X(71)90514-6

Kresse H., 1972, The Sanfilippo A corrective factor, J. biol. Chem., 247, 2164, 10.1016/S0021-9258(19)45506-3

10.1016/0006-291X(73)90807-3

Kresse H., 1976, Clinical and biochemical findings in a family with Sanfilippo disease type C, Clin. Genet., 10, 364

10.1073/pnas.77.11.6822

Lambotte C., 1975, Mucopolysaccharidoses et mucolipidoses, Tev. Méd. Liège, 30, 751

10.1016/0009-8981(75)90134-5

10.1111/j.1399-0004.1976.tb00048.x

McKusick V. A., 1972, Heritable Disorders of Connective Tissue

McKusick V. A., 1978, The Metabolic Basis of Inherited Disease, 1282

10.1073/pnas.69.7.1720

10.1007/978-94-011-6615-7_4

Thông tin
Thông tin xuất bản

Clinical Genetics

Tập 20 Số 2

152-160

Thông tin tác giả