Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide

Alireza Haghighi, Amira Masri, Ruth Kornreich, Robert J. Desnick

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

Abstract

Tay-Sachs disease (TSD), a pan-ethnic, autosomal recessive, neurodegenerative, lysosomal disease, results from deficient β-hexosaminidase A activity due to β-hexosaminidase α-subunit (HEXA) mutations. Prenatal/premarital carrier screening programs in the Ashkenazi Jewish community have markedly reduced disease occurrence. We report the first Jordanian Arab TSD patient diagnosed by deficient β-hexosaminidase A activity. HEXA mutation analysis revealed homozygosity for a nonsense mutation, c.78G>A (p.W26X). Previously reported in Arab patients, this mutation is a candidate for TSD screening in Arab populations.

Original languageEnglish
Pages (from-to)700-702
Number of pages3
JournalMolecular Genetics and Metabolism
Volume104
Issue number4
DOIs
StatePublished - Dec 2011

Keywords

  • Jordan
  • Lysosomal storage disorder
  • Tay-Sachs disease
  • β-hexosaminidases A and B

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