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Niemann Pick disease type A in Israeli Arabs: 677delT, a common novel single mutation
Author(s) -
Gluck Iris,
Zeigler Marsha,
Bargal Ruth,
Schiff Elena,
Bach Gideon
Publication year - 1998
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1998)12:2<136::aid-humu12>3.0.co;2-y
Subject(s) - metachromatic leukodystrophy , biology , genetics , leukodystrophy , mutation , niemann–pick disease, type c , founder effect , population , disease , acid sphingomyelinase , gene , allele , sphingomyelin , medicine , haplotype , endocrinology , biochemistry , environmental health , cholesterol , membrane
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. Mutation 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. Hum Mutat 12:136, 1998. © 1998 Wiley‐Liss, Inc.