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Analysis of HEXB gene mutations in an infant with Sandhoff disease / 中华医学遗传学杂志
Article in Zh | WPRIM | ID: wpr-776772
Responsible library: WPRO
ABSTRACT
OBJECTIVE@#To detect potential mutations of HEXB gene in an infant with Sandhoff disease (SD).@*METHODS@#Genomic DNA was extracted from peripheral blood sample of the infant. All coding exons (exons 1 to 14) and splicing sites of the HEXB gene were subjected to PCR amplification and direct sequencing.PubMed Protein BLAST system was employed to analyze cross-species conservation of the mutant amino acid. PubMed BLAST CD-search was performed to identify functional domains destroyed by thecandidate mutations. Impact of the mutations was analyzed with software including PolyPhen-2, Mutation Taster and SIFT. Whole-exome sequencing was carried out to identify additional mutations.@*RESULTS@#The infant was found to carry compound heterozygous mutations c.1652G>A(p.Cys551Tyr) and c.1389C>G (p.Tyr463*) of the HEXB gene. The c.1389C>G (p.Tyr463*) mutation may lead to destruction of two functional domains in β subunit of the Hex protein. The c.1652G>A(p.Cys551Tyr) mutation, unreported previously,was predicted to be probably damaging by Bioinformatic analysis.@*CONCLUSION@#Compound heterozygous mutations c.1652G>A(p.Cys551Tyr) and c.1389C>G (p.Tyr463*) in the HEXB gene probably underlie the disease in this patient.
Subject(s)
Full text: 1 Database: WPRIM Main subject: Sandhoff Disease / DNA Mutational Analysis / Polymerase Chain Reaction / Exons / Beta-Hexosaminidase beta Chain / Genetics / Heterozygote / Mutation Limits: Humans / Infant Language: Zh Journal: Chinese Journal of Medical Genetics Year: 2019 Document type: Article
Full text: 1 Database: WPRIM Main subject: Sandhoff Disease / DNA Mutational Analysis / Polymerase Chain Reaction / Exons / Beta-Hexosaminidase beta Chain / Genetics / Heterozygote / Mutation Limits: Humans / Infant Language: Zh Journal: Chinese Journal of Medical Genetics Year: 2019 Document type: Article