Estonian
Albanian
Arabic
Armenian
Azerbaijani
Belarusian
Bengali
Bosnian
Catalan
Czech
Danish
Deutsch
Dutch
English
Estonian
Finnish
Français
Greek
Haitian Creole
Hebrew
Hindi
Hungarian
Icelandic
Indonesian
Irish
Italian
Japanese
Korean
Latvian
Lithuanian
Macedonian
Mongolian
Norwegian
Persian
Polish
Portuguese
Romanian
Russian
Serbian
Slovak
Slovenian
Spanish
Swahili
Swedish
Turkish
Ukrainian
Vietnamese
Български
中文(简体)
中文(繁體)
BMC Medical Genetics 2018-Jun

Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease.

Ainult registreeritud kasutajad saavad artikleid tõlkida
Logi sisse
Link salvestatakse lõikelauale
Nguyen Thi Mai Huong
Nguyen Thi Kim Lien
Ngo Diem Ngoc
Nguyen Thi Phuong Mai
Nguyen Pham Anh Hoa
Le Thanh Hai
Phan Van Chi
Ta Thanh Van
Tran Van Khanh
Nguyen Huy Hoang

Märksõnad

Abstraktne

BACKGROUND

Wilson disease (OMIM # 277900) is a autosomal recessive disorder characterized by accumulation of copper in liver and brain. The accumulation of copper resulting in oxidative stress and eventually cell death. The disease has an onset in a childhood and result in a significant neurological impairment or require lifelong treatment. Another serious consequence of the disease is the development of liver damage and acute liver failure leading to liver transplant. The disorder is caused by mutations in the ATP7B gene, encoding a P-type copper transporting ATPase.

METHODS

We performed genetic analysis of three unrelated patients from three different Vietnamese families. These patients had clinical features such as numbness of hands and feet, vomiting, insomnia, palsy, liver failure and Kayser-Fleischer (K-F) rings and were diagnosed with Wilson disease in the Human Genetics Department, Vietnam National Children's Hospital. The entire coding region and adjacent splice sites of ATP7B gene were amplified and sequenced by Sanger method. Sequencing data were analyzed and compared with the ATP7B gene sequence published in Ensembl (ENSG00000123191) by using BioEdit software to detect mutations.

CONCLUSIONS

In this study, five mutations in the ATP7B gene were found. Among of these, three mutations were novel: c.750_751insG (p.His251Alafs*19) in exon 2, c.2604delC (p.Pro868Profs*5) in exon 11, and c.3077 T > A (p.Phe1026Tyr) in exon 14. Our results of the mutations associated with Wilson disease might facilitate the development of effective treatment plans.

Liitu meie
facebooki lehega

Kõige täiuslikum ravimtaimede andmebaas, mida toetab teadus

  • Töötab 55 keeles
  • Taimsed ravimid, mida toetab teadus
  • Maitsetaimede äratundmine pildi järgi
  • Interaktiivne GPS-kaart - märgistage ürdid asukohas (varsti)
  • Lugege oma otsinguga seotud teaduspublikatsioone
  • Otsige ravimtaimi nende mõju järgi
  • Korraldage oma huvisid ja hoidke end kursis uudisteuuringute, kliiniliste uuringute ja patentidega

Sisestage sümptom või haigus ja lugege ravimtaimede kohta, mis võivad aidata, tippige ürdi ja vaadake haigusi ja sümptomeid, mille vastu seda kasutatakse.
* Kogu teave põhineb avaldatud teaduslikel uuringutel

Google Play badgeApp Store badge