Analysis of HEXB gene mutations in an infant with Sandhoff disease / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 930-934, 2019.
Article
в Zh
| WPRIM
| ID: wpr-776772
Ответственная библиотека:
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.
Полный текст:
1
База данных:
WPRIM
Основная тема:
Sandhoff Disease
/
DNA Mutational Analysis
/
Polymerase Chain Reaction
/
Exons
/
Beta-Hexosaminidase beta Chain
/
Genetics
/
Heterozygote
/
Mutation
Пределы темы:
Humans
/
Infant
Язык:
Zh
Журнал:
Chinese Journal of Medical Genetics
Год:
2019
Тип:
Article