Seven Novel Acid Sphingomyelinase Gene Mutations in Niemann-Pick Type A and B Patients
Version of Record online: 13 JAN 2003
Annals of Human Genetics
Volume 67, Issue 1, pages 63–70, January 2003
How to Cite
Sikora, J., Pavlu-Pereira, H., Elleder, M., Roelofs, H. and Wevers, R. A. (2003), Seven Novel Acid Sphingomyelinase Gene Mutations in Niemann-Pick Type A and B Patients. Annals of Human Genetics, 67: 63–70. doi: 10.1046/j.1469-1809.2003.00009.x
- Issue online: 13 JAN 2003
- Version of Record online: 13 JAN 2003
We have analyzed acid sphingomyelinase (SMPD1; E.C. 22.214.171.124) gene mutations in four Niemann-Pick disease (NPD) type A and B patients of Turkish ancestry and in three patients of Dutch origin.
Among four NPD type A patients we found two homozygotes for the g.1421C > T (H319Y) and g.3714T > C (Y537H) mutations and two compound heterozygotes, one for the g.3337T > C (F463S) and g.3373C > T (P475L) mutations and the other for the g.84delC (G29fsX74) and g.1208A > C (S248R) mutations.
One of the type B patients was homozygous for the g.2629C>T (P371S) mutation. The last two type B patients were homozygotes for the common g.3927_3929delCGC (R608del) mutation.
The G29fsX74, S248R, H319Y, P371S, F463S, P475L and Y537H SMPD1 mutations are all novel and were verified by PCR/RFLP and/or ARMS. All of the identified mutations are likely to be rare or private, with the exception of R608del which is prevalent among NPD type B patients from the North-African Maghreb region. Geographical and/or social isolation of the affected families are likely contributing factors for the high number of homozygotes in our group.