A novel frameshift mutation of HEXA gene in the first family with classical infantile Tay-Sachs disease in Thailand
- Author:
Boonchai Boonyawat
;
Tim Phetthong
;
Charcrin Nabangchang
;
Piradee Suwanpakdee
- Publication Type:Case Reports
- MeSH:
Tay-Sachs Disease
- From:Neurology Asia
2016;21(3):281-285
- CountryMalaysia
- Language:English
-
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:P020161014441301059788.pdf
