Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population

Lisa Edelmann, Jianli Dong, Robert J. Desnick, Ruth Kornreich

Research output: Contribution to journalArticlepeer-review

30 Scopus citations


Mutations in the MCOLN1 gene cause mucolipidosis type IV (MLIV), a severely debilitating, autosomal recessive, lysosomal storage disorder. Approximately 80% of patients with MLIV are of Ashkenazi Jewish (AJ) descent, and two mutations, IVS3 - 2A→G and 511del6434, account for >95% of the mutant alleles in this population. To determine the carrier frequencies of these two mutations, 2,029 anonymous, unrelated, unaffected AJ individuals from the greater New York metropolitan area were screened. A multiplex PCR method coupled with allele-specific oligonucleotide hybridization was developed, to enable large-scale screening. The frequencies of the IVS3 - 2A→G and 511del6434 mutations were 0.54% and 0.25%, respectively, for a combined carrier frequency of 0.79%, or 1 in 127 individuals (95% CI 0.40%-1.17%). The addition of both AJ mutations causing this neurodegenerative disorder should be considered for prenatal carrier screening in this population.

Original languageEnglish (US)
Pages (from-to)1023-1027
Number of pages5
JournalAmerican Journal of Human Genetics
Issue number4
StatePublished - 2002
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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