Hong-Wen Zhu1,2, Zhong-Bin Tao3, Gang Su4, Qiao-Ying Jin1,2, Liang-Tao Zhao1,2, Jia-Rui Zhu1,2, Jun Yan5, Tian-Yu Yu1,5, Jie-Xian Ding5, Yu-Min Li6,7,8. 1. Laboratory of Medical Genetics, The Second Hospital of Lanzhou University, Lanzhou, China. 2. Key Laboratory of Digestive System Tumors of Gansu Province, Lanzhou, China. 3. Department of Pediatrics, The First Hospital of Lanzhou University, Lanzhou, China. 4. Institute of Genetics, Lanzhou University School of Basic Medical Sciences, Lanzhou, China. 5. Second Clinical Medical College of Lanzhou University, Lanzhou, China. 6. Laboratory of Medical Genetics, The Second Hospital of Lanzhou University, Lanzhou, China. liym@lzu.edu.cn. 7. Key Laboratory of Digestive System Tumors of Gansu Province, Lanzhou, China. liym@lzu.edu.cn. 8. The Second Hospital of Lanzhou University, Key Laboratory of Digestive System Tumors of Gansu Province, Lanzhou, 730030, China. liym@lzu.edu.cn.
Abstract
BACKGROUND: Wilson's disease is an autosomal recessive disorder characterized by liver disease and/or neurologic deficits due to copper accumulation and is caused by pathogenic mutations in the ATP7B gene. DATA SOURCES: Two unrelated Chinese patients born to nonconsanguineous parents who were diagnosed with earlyonset Wilson's disease. DNA sequencing and bioinformation analysis were conducted. RESULTS: We have identified four mutations in two family trios, of which two were novel, namely, c. 3028A>G (p. K1010E) and c.3992T>G (p.Y1331X), in each patient. CONCLUSIONS: Gene testing is playing an important role in diagnosis of Wilson's disease. The early-onset of Wilson's disease is apparently not associated with P-ATPase domain in the ATP7B protein. Our findings further widen the spectrum of mutations involving the ATP7B gene.
BACKGROUND:Wilson's disease is an autosomal recessive disorder characterized by liver disease and/or neurologic deficits due to copper accumulation and is caused by pathogenic mutations in the ATP7B gene. DATA SOURCES: Two unrelated Chinese patients born to nonconsanguineous parents who were diagnosed with earlyonset Wilson's disease. DNA sequencing and bioinformation analysis were conducted. RESULTS: We have identified four mutations in two family trios, of which two were novel, namely, c. 3028A>G (p. K1010E) and c.3992T>G (p.Y1331X), in each patient. CONCLUSIONS: Gene testing is playing an important role in diagnosis of Wilson's disease. The early-onset of Wilson's disease is apparently not associated with P-ATPase domain in the ATP7B protein. Our findings further widen the spectrum of mutations involving the ATP7B gene.
Authors: S Santhosh; R V Shaji; C E Eapen; V Jayanthi; S Malathi; P Finny; N Thomas; M Chandy; G Kurian; G M Chandy Journal: World J Gastroenterol Date: 2008-08-07 Impact factor: 5.742
Authors: M S Nanji; V T Nguyen; J H Kawasoe; K Inui; F Endo; T Nakajima; T Anezaki; D W Cox Journal: Am J Hum Genet Date: 1997-06 Impact factor: 11.025