A novel COL4A5 splicing mutation causing Alport syndrome in a Chinese family

Chinese Journal of Medical Genetics

Volumn 25, Issue 6, 2008, Pages 649-652

  Tang, Zhao Hui ^a   Dai, Yang ^b   Wan, Zhi Hui ^a   Zhan, Tai Lan ^a   Tan, Jin Wang ^a   Ren, Xiang ^a   Liu, Jing Yu ^a   Wang, Qing ^a   Liu, Mu Gen ^a  

^a HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^b SHENZHEN PEOPLE'S HOSPITAL   (China)

Author keywords

Alport syndrome; COL4A5 gene; Mutation; Restriction fragment length polymorphism; Splicing

Indexed keywords

COLLAGEN TYPE 4; PROTEIN COL4A5; UNCLASSIFIED DRUG;

ALPORT SYNDROME; ARTICLE; BLOOD SAMPLING; CHINESE; CONTROLLED STUDY; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; PATHOGENESIS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RNA SPLICING;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, X; COLLAGEN TYPE IV; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; LINKAGE (GENETICS); MALE; MUTATION; NEPHRITIS, HEREDITARY; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RNA SPLICING;

EID: 57849098776     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

1. Stenson PD, Ball EV, Mort M, et al. Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat, 2003,21:577-581.
2. Kawai S, Nomura S, Harano T, et al. The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. The Japanese Alport Network. Kidney Int, 1996,49:814-822.
3. Wang F, Wang Y, Ding J, et al. Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts. Kidney Int, 2005,67:1268-1274.
4. Lemmink HH, Schröder CH, Monnens LA, et al. The clinical spectrum of type IV collagen mutations. Hum Mutat, 1997,9:477-499.
5. Tang ZH, Xia L, Chang W, et al. Two novel missense mutations of GATA4 in Chinese patients with sporadic congenital heart defects. Chin J Med Genet, 2006,23:134-137.
6. Pan XX, Yan JY, Ren H, et al. Detection of COL4A5 gene mutations in Chinese patients with Alport's syndrome. Nephrol Dial Transplant, 2004, 19:1123-1128.
7. Wang Q, Liu M, Xu C, et al. Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family. J Mol Med, 2005,83:203-208.
8. Hudson BG. The molecular basis of Goodpasture and Alport syndromes: beacons for the discovery of the collagen IV family. J Am Soc Nephrol, 2004,15:2514-2527.
9. Khoshnoodi J, Cartailler JP, Alvares K, et al. Molecular recognition in the assembly of coilagens: terminal noncollagenous domains are key recognition modules in the formation of triple helical protomers. J Biol Chem, 2006,281:38117-38121.
10. Kobayashi T, Kakihara T, Uchiyama M. Mutational analysis of type IV collagen alpha5 chain, with respect to heterotrimer formation. Biochem Biophys Res Commun, 2008,366:60-65.
11. Gross O, Netzer KO, Lambrecht R, et al. Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling. Nephrol Dial Transplant, 2002,17:1218-1227.
12. Jais JP, Knebelmann B, Giatras I, et al. X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study. J Am Soc Nephrol, 2003,14:2603-2610.
13. Jais JP, Knebelmann B, Giatras I, et al. X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Nephrol, 2000,11:649-657.