Carrier Screening for Mucolipidosis Type IV in the American Ashkenazi Jewish Population
AUTOR(ES)
Edelmann, Lisa
FONTE
The American Society of Human Genetics
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=379096Documentos Relacionados
- Maple Syrup Urine Disease: Identification and Carrier-Frequency Determination of a Novel Founder Mutation in the Ashkenazi Jewish Population
- Constitutive achlorhydria in mucolipidosis type IV
- The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program
- Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population.
- Abnormal transport along the lysosomal pathway in Mucolipidosis, type IV disease