Document Detail

Niemann Pick Disease type A in Israeli Arabs: 677delT, a common novel single mutation. Mutations in brief no. 161. Online.
MedLine Citation:
PMID:  10694919     Owner:  NLM     Status:  MEDLINE    
A novel single base pair deletion in the acid sphingomyelinase (ASM) gene (677delT in the cDNA) was identified in 12 Israeli Arab families with Niemann-Pick disease (NPD) type A. This deletion creates a premature stop codon which explains the complete deficiency of ASM activity in these patients and the severe clinical manifestation. A single mutation in 12 families living in a relatively small geographical region suggests a founder effect and explains the high frequency of this disease in this population. This is in contrast to multiple mutations found in two other lysosomal storage disorders prevalent in this population, namely, Hurler disease (MPSI) and metachromatic leukodystrophy. Mutations analysis is therefore an important tool in characterizing the grounds for the high frequency of inherited diseases as well as a basis for prevention programs for prevalent diseases through carrier identification and the ascertainment of high risk families.
I Gluck; M Zeigler; R Bargal; E Schiff; G Bach
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Human mutation     Volume:  12     ISSN:  1059-7794     ISO Abbreviation:  Hum. Mutat.     Publication Date:  1998  
Date Detail:
Created Date:  2000-01-18     Completed Date:  2000-01-18     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9215429     Medline TA:  Hum Mutat     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  136     Citation Subset:  IM    
Department of Human Genetics, Hadassah Hebrew University Hospital, Jerusalem 91120, Israel.
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MeSH Terms
Arabs / genetics*
Israel / ethnology
Mutation / genetics*
Niemann-Pick Diseases / genetics*
Sphingomyelin Phosphodiesterase / genetics*
Reg. No./Substance:
EC Phosphodiesterase

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