A novel frameshift mutation of HEXA gene in the first family with classical infantile Tay-Sachs disease in Thailand
Neurology Asia
;
: 281-285, 2016.
Article
in English
| WPRIM
| ID: wpr-625393
ABSTRACT
Tay-Sachs disease (TSD) is an autosomal recessive neurodegenerative disorder caused by mutations in the HEXA gene resulting in a deficiency of β-hexosaminidase A (HEX A) enzyme. To our knowledge, TSD has never been reported in Thai population. We describe the first case of classic infantile TSD in a 2-year-old Thai boy who presented with first episode of seizure and neuroregression since 9 months of age. Hyperacusis, progressive macrocephaly and macular cherry red spots were also detected during examination. Brain MRI revealed hyperintensity in the basal ganglion on T1-weighted and partial corpus callosum agenesis. Measurement of β-hexosaminidase activity in the patient leukocytes showed low total β-hexosaminidase (62.6 normal 801+/-190 nmol/mg protein/hr) and low %HEX A (7.57 normal 55-72%HEX A) activity compatible with TSD. Mutation analysis of the HEXA gene revealed compound heterozygous of a novel frameshift mutation (c.1207delG or p.E403SfsX20) in exon 11 which was inherited from the mother and a previously described missense mutation (c.1510C>T or p.R504C) in exon 13 which was inherited from the father, respectively. Conclusion. We report a clinical, biochemical and molecular analysis in the first case of genetically confirmed classic infantile TSD in Thailand.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Tay-Sachs Disease
Type of study:
Prognostic study
Language:
English
Journal:
Neurology Asia
Year:
2016
Type:
Article
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