Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population

Human Mutation
R BargalG Bach

Abstract

The gene MCOLN1 is mutated in Mucolipidosis type IV (MLIV), a neurodegenerative, recessive, lysosomal storage disorder. The disease is found in relatively high frequency among Ashkenazi Jews due to two founder mutations that comprise 95% of the MLIV alleles in this population [Bargal et al., 2000]. In this report we complete the mutation analysis of Jewish and non-Jewish MLIV patients whose DNA were available to us. Four novel mutations were identified in the MCOLN1 gene of severely affected patients: two missense, T232P and F465L; a nonsense, R322X; and an 11-bp insertion in exon 12. The nonsense mutation (R322X) was identified in two unrelated patients with different haplotypes in the MCOLN1 chromosomal region, indicating a mutation hotspot in this CpG site. An in-frame deletion (F408del) was identified in a patient with unusual mild psychomotor retardation. The frequency of MLIV in the general Jewish Ashkenazi population was estimated in a sample of 2,000 anonymous, unrelated individuals assayed for the two founder mutations. This analysis indicated a heterozygotes frequency of about 1/100. A preferred nucleotide numbering system for MCOLN1 mutations is presented and the issue of a screening program for the detection of high...Continue Reading

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Citations

Oct 14, 2004·Pflügers Archiv : European journal of physiology·Joris VriensBernd Nilius
Dec 1, 2004·Pflügers Archiv : European journal of physiology·Gideon Bach
Feb 4, 2010·Pflügers Archiv : European journal of physiology·Bernd Nilius, Grzegorz Owsianik
May 27, 2011·American Journal of Physiology. Cell Physiology·Fan ZhangPin-Lan Li
Jan 23, 2009·American Journal of Physiology. Renal Physiology·Rosa Puertollano, Kirill Kiselyov
Feb 28, 2009·Pediatric Research·Aviram Kogot-LevinGideon Bach
Feb 20, 2007·Biochimica Et Biophysica Acta·David A ZeeviGideon Bach
Feb 11, 2015·Annual Review of Physiology·Haoxing Xu, Dejian Ren
May 21, 2013·Gene·AlBandary AlBakheetMoeenaldeen Al-Sayed
Jul 19, 2011·Molecular Genetics and Metabolism·Kazuyo WakabayashiEhud Goldin
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