✦ LIBER ✦

Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease

✍ Scribed by Sangwook Park; Jung-Young Park; Gu-Hwan Kim; Jin-Ho Choi; Kyung-Mo Kim; Jong-Bae Kim; Han-Wook Yoo

Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 281 KB
Volume: 28
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.20574

No coin nor oath required. For personal study only.

✦ Synopsis

Communicated by Jurgen Horst

Wilson disease (WND), an autosomal recessive disorder of copper transport, is characterized by excessive accumulation of intracellular copper in liver and extrahepatic tissues because of impaired biliary copper excretion and disturbed incorporation of copper into ceruloplasmin. Hepatic cirrhosis and neuronal degeneration are the major symptoms of WND, and mutations in the ATP7B gene are associated with WND. We have identified 28 different mutations in the ATP7B gene, including six novel variations, in 120 unrelated Korean patients with WND. Molecular defects in ATP7B were present in only 75.0% of Korean WND patients, with the most common mutation, p.Arg778Leu, having an allele frequency of 39.2%. To evaluate the functional defects of ATP7B caused by novel mutations, we used a yeast complementation system, and we used confocal microscopy to localize each mutation after transient expression in mammalian cells. Six novel variations were cloned into a yeast expression vector and two into a mammalian expression vector for confocal analysis. We found that c.2785A4G (p.Ile929Val) and c.3316G4A (p.Val1106Ile) were rare polymorphisms, whereas the others were novel variations disturbing ATP7B function. Hum Mutat 28(11),

📜 SIMILAR VOLUMES

Wilson disease: Novel mutations in the A

Wilson disease: Novel mutations in the ATP7B gene and clinical correlation in Brazilian patients

✍ Marta M. Deguti; Janine Genschel; Eduardo L.R. Cancado; Egberto R. Barbosa; Bett 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 225 KB 👁 1 views

Wilson disease (WD) is a rare inherited autosomal recessive disorder caused by a defect in a metal transporting P-type ATPase, resulting in copper overload in various tissues and cells. The aim was to assess both the phenotype in Brazilian WD patients and the corresponding ATP7B genotype. Sixty subj

Identification of three novel mutations

Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease

✍ Eun Kyung Kim; Ook Joon Yoo; Kyu Young Song; Han Wook Yoo; Sang Yong Choi; Sung 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 168 KB 👁 2 views

Four mutations-R778L, A874V, L1083F, and 2304delC-in the copper-transporting enzyme, P-type ATPase (ATP7B), were identified in Korean Patients with Wilson disease. Arg778Leu, the most frequently reported mutation of this enzyme, was found in six of eight unrelated patients studied, an allele frequen

Mutations of ATP7B gene in wilson diseas

Mutations of ATP7B gene in wilson disease in Japan: Identification of nine mutations and lack of clear founder effect in a Japanese population

✍ Akihiro Yamaguchi; Dr. Akihiro Matsuura; Shinichiro Arashima; Yuko Kikuchi; Koki 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 394 KB 👁 1 views

Wilso$disease (WND) is an inborn error of copper metabolism inherited in an autosomal recessive manner. We here report a study of mutations and haplotypes associated with WND in the Japanese. Hepatic and neurological symptoms of Wilson disease (WND), an inborn error of copper metabolism, are ascrib

Mutational analysis of ATP7B and genotyp

Mutational analysis of ATP7B and genotype–phenotype correlation in Japanese with Wilson's disease

✍ Toshihide Okada; Yuta Shiono; Hisao Hayashi; Hiro Satoh; Takeshi Sawada; Ayako S 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 286 KB 👁 2 views

The gene ATP7B responsible for Wilson's disease (WD) produces a protein which is predicted to be a copper-binding P-type ATPase, homologous to the Menkes disease gene (ATP7A). Various mutations of ATP7B have been identified. This study aimed to detect disease-causing mutations, to clarify their freq

Mutation analysis in patients with Wilso

Mutation analysis in patients with Wilson disease: Identification of 4 novel mutations

✍ Regina Haas; Bertha Gutierrez-Rivero; Judith Knoche; Klaus Böker; Michael P. Man 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 21 KB 👁 2 views

In order to obtain novel mutations in the recently discovered Wilson disease gene, we screened 5 unrelated German individuals for mutations in the 21 exons and their flanking intronic sequences. We detected 9 mutations affecting the Wilson disease gene. Four of those, designated 802-808delTGTAAGT, 2

24 bp deletion and Ala1278 to val mutati

24 bp deletion and Ala1278 to val mutation of the ATP7B gene in a Sardinian family with Wilson disease

✍ S Orrù; G Thomas; A Loizedda; DW Cox; L Contu 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 58 KB 👁 1 views