Premium
The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations
Author(s) -
Bach Gideon,
Webb Michael B.T.,
Bargal Ruth,
Zeigler Marcia,
Ekstein Joseph
Publication year - 2005
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/humu.9385
Subject(s) - biology , genetics , missense mutation , nonsense mutation , population , founder effect , nonsense , mucolipidosis , mutation , gene , haplotype , genotype , medicine , biochemistry , environmental health , enzyme
Mucolipidosis type IV (MLIV) is a neurodegenerative lysosomal storage disorder that occurs in an increased frequency in the Ashkenazi Jewish (AJ) population. The frequency of the disease in this population has been established by the testing of 66,749 AJ subjects in the Dor Yeshorim program, a unique premarital population‐screening program designed for the Orthodox Jewish community. A carrier rate of 0.0104 (95% C.I 0.0097‐0.011) was found. The distribution of the 2 AJ founder mutations, namely, c.416‐2A>G and c.1_788del, was determined to be 78.15% and 21.85%, respectively. Three novel mutations were identified in non‐Jewish MLIV patients, a missense mutation c.1207C>T, p.Arg403Cys; a 2bp deletion, c.302_303delTC; and a nonsense, c.235C>T, Gln79X. © 2005 Wiley‐Liss, Inc.