A novel mutation in the ATP7B gene causing hepatolenticular degeneration in a Chinese family: A case report.
Medicine (Baltimore)
; 103(31): e38849, 2024 Aug 02.
Article
em En
| MEDLINE
| ID: mdl-39093796
ABSTRACT
INTRODUCTION:
Hepatolenticular degeneration (Wilson disease) is an autosomal recessive monogenic disorder caused by mutations in the ATPase copper transporting beta (ATP7B) gene located on human chromosome 13. This gene encodes a copper-transporting P-type ATPase (ATP7B). Recent studies have revealed that the ATP7B gene is predominantly affected by a few hotspot mutations, with the His1069Gln mutation in exon 14 accounting for 50 to 80% of cases. In China, the Arg778Leu mutation in exon 8 is the most prevalent. However, the discovery of novel mutant genes persists. CASE PRESENTATION A 56-year-old Chinese female was referred to our hospital with a liver injury and cirrhosis. Her parents, 2 younger brothers, and children exhibited no signs of liver function impairment. Whole-exome sequencing was conducted on the proband's genomic DNA, and Sanger sequencing was performed on 6 family members for first-generation verification.CONCLUSIONS:
We identified a novel c.3715Gâ >â T (p.Val1239Phe) variant mutation in the ATP7B gene in the patient. The ATP7B c.3715Gâ >â T (p.Val1239Phe) variant is predicted to impact the copper transport P-type ATPase. When combined with another mutant gene to form a compound heterozygous mutation, it can lead to hepatolenticular degeneration. This discovery broadens the range of pathogenic genes in the ATP7B gene.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
ATPases Transportadoras de Cobre
/
Degeneração Hepatolenticular
Limite:
Female
/
Humans
/
Middle aged
País/Região como assunto:
Asia
Idioma:
En
Revista:
Medicine (Baltimore)
Ano de publicação:
2024
Tipo de documento:
Article