Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide |
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| Authors: | Haghighi Alireza Masri Amira Kornreich Ruth Desnick Robert J |
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| Institution: | a Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UKb Department of Pediatrics, Division of Child Neurology, Faculty of Medicine, The University of Jordan, Amman, Jordanc Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY, USA |
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| 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. |
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| Keywords: | Lysosomal storage disorder Tay-Sachs disease β-hexosaminidases A and B HEXA gene α-subunit Jordan |
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