title: The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations.
abstract: 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.
authors.affiliation: Department of Human Genetics, Hadassah Hebrew University Hospital, Jerusalem, Israel. bach@hadassah.org.il
authors.forename: Gideon
authors.initials: G
authors.lastname: Bach
authors.forename: Michael B T
authors.initials: MB
authors.lastname: Webb
authors.forename: Ruth
authors.initials: R
authors.lastname: Bargal
authors.forename: Marcia
authors.initials: M
authors.lastname: Zeigler
authors.forename: Joseph
authors.initials: J
authors.lastname: Ekstein
mesh_terms: D001483:Base Sequence; D018389:Codon, Nonsense; D005060:Europe / Q000208:ethnology; D005260:Female; D018703:Founder Effect; D005787:Gene Frequency; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D007557:Israel / Q000453:epidemiology; D007585:Jews / Q000235:genetics*; D009081:Mucolipidoses / Q000453:epidemiology / Q000235:genetics*; D020125:Mutation, Missense; D017384:Sequence Deletion; D050053:TRPM Cation Channels / Q000235:genetics*; D050051:Transient Receptor Potential Channels
chemical_list: D018389:Codon, Nonsense; C416674:MCOLN1 protein, human; D050053:TRPM Cation Channels; D050051:Transient Receptor Potential Channels