2021
DOI: 10.1186/s12887-020-02481-3
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Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients

Abstract: Background Sandhoff disease (SD) is an autosomal recessive lysosomal storage disorder, resulting in accumulation of GM2 ganglioside, particular in neuronal cells. The disorder is caused by deficiency of β-hexosaminidase B (HEX-B), due to pathogenic variant of human HEXB gene. Method This study describes clinical features, biochemical, and genetic defects among Thai patients with infantile SD during 2008–2019. Results … Show more

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Cited by 9 publications
(6 citation statements)
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“…Lower residual enzyme activity may represent more GM2 ganglioside deposition, more pronounced symptoms, and earlier onset of the disease. There are some residual HEXA&B activities in juvenile and adult SD [ 11 , 12 ], but absent to near-absent in infantile SD patients [ 13 ]. Thus, residual enzymes activities could be a biomarker for disease progression and therapeutic effects evaluation for SD.…”
Section: Discussionmentioning
confidence: 99%
“…Lower residual enzyme activity may represent more GM2 ganglioside deposition, more pronounced symptoms, and earlier onset of the disease. There are some residual HEXA&B activities in juvenile and adult SD [ 11 , 12 ], but absent to near-absent in infantile SD patients [ 13 ]. Thus, residual enzymes activities could be a biomarker for disease progression and therapeutic effects evaluation for SD.…”
Section: Discussionmentioning
confidence: 99%
“…The protein sequence of PKC gamma (ENST00000263431.4) was retrieved from ENSEMBL Genome Browser and missense SNPs were selected and retrieved from the variant table. These missense SNPs were then subjected to different toolsi.e, PredictSNP2, CADD, DANN, FATHMM, FunSeq2 and GWAVA to classify them as neutral or deleterious [ 22 ]. After further filtering, SNPs were sorted out that were predicted deleterious by all the six tools.…”
Section: Methodsmentioning
confidence: 99%
“…The selected nsSNPs were further analyzed to establish the impact of residue change on protein stability, structure and function. The amino acid sequence of the protein PKC gamma was submitted to I-TASSER [ 22 ] for structure remodeling and prediction. Among the five predicted model via I-TASSER, model 3 was selected based on C-score and InterPro analysis.…”
Section: Methodsmentioning
confidence: 99%
“…As for other sphingolipidoses, Sandhoff disease has been classified into infantile, juvenile, and adult forms according to the severity of the disease and the age of onset. The cardinal clinical features of infantile Sandhoff disease are seizure, muscle weakness, developmental delay, and regression; death occurs before 3 years of age [81]. Late onset forms are less common and characterized by lower motor neuron disease and neurological degeneration [82,83].…”
Section: Sandhoff Diseasementioning
confidence: 99%