RGD Reference Report - Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients. - Rat Genome Database

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Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients.

Authors: Sikora, J  Pavlu-Pereira, H  Elleder, M  Roelofs, H  Wevers, RA 
Citation: Sikora J, etal., Ann Hum Genet. 2003 Jan;67(Pt 1):63-70.
RGD ID: 1601336
Pubmed: PMID:12556236   (View Abstract at PubMed)

We have analyzed acid sphingomyelinase (SMPD1; E.C. 3.1.4.12) 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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Niemann-Pick disease susceptibilityIAGP 1601336Niemann-Pick Disease more ...RGD 
Niemann-Pick disease susceptibilityISOSMPD1 (Homo sapiens)1601336; 1601336Niemann-Pick Disease more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Smpd1  (sphingomyelin phosphodiesterase 1)

Genes (Mus musculus)
Smpd1  (sphingomyelin phosphodiesterase 1, acid lysosomal)

Genes (Homo sapiens)
SMPD1  (sphingomyelin phosphodiesterase 1)


Additional Information