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.
Artigo
em Chinês
| WPRIM
| ID: wpr-776772
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Doença de Sandhoff
/
Análise Mutacional de DNA
/
Reação em Cadeia da Polimerase
/
Éxons
/
Cadeia beta da beta-Hexosaminidase
/
Genética
/
Heterozigoto
/
Mutação
Limite:
Humanos
/
Lactente
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
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