A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing

BioMed Research International

Volumn 2014, Issue , 2014, Pages

  Xiu, Xiaofei ^a,b   Yuan, Jinzhong ^a   Deng, Xiong ^a   Xiao, Jingjing ^c   Xu, Hongbo ^a   Zeng, Zhaoyang ^d   Guan, Liping ^c   Xu, Fengping ^c   Deng, Sheng ^a,b  

^a THE THIRD XIANGYA HOSPITAL OF CENTRAL SOUTH UNIVERSITY   (China)

^b CENTRAL SOUTH UNIVERSITY   (China)

^c BGI SHENZHEN   (China)

^d Central South University   (China)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; COLLAGEN TYPE 4; COLLAGEN TYPE 4 ALPHA 5; UNCLASSIFIED DRUG; COL4A5 PROTEIN, HUMAN;

ADULT; ALPORT SYNDROME; ARTICLE; CHILD; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; END STAGE RENAL DISEASE; EXOME; FAMILY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOME; HAPLOTYPE MAP; HUMAN; MALE; ONSET AGE; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; STOP CODON; YOUNG ADULT; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; CHEMISTRY; CHINA; ETHNIC GROUP; GENETICS; HETEROZYGOTE; MOLECULAR GENETICS; MUTATION; NEPHRITIS; NUCLEOTIDE SEQUENCE;

ADULT; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHINA; COLLAGEN TYPE IV; DNA MUTATIONAL ANALYSIS; ETHNIC GROUPS; EXOME; FAMILY; FEMALE; HETEROZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NEPHRITIS, HEREDITARY; PEDIGREE;

EID: 84904617647     PISSN: 23146133     EISSN: 23146141     Source Type: Journal    
DOI: 10.1155/2014/186048     Document Type: Article

References (28)

1. van Agtmael T., Bruckner-Tuderman L., Basement membranes and human disease. Cell and Tissue Research 2010 339 1 167 188 10.1007/s00441-009-0866-y 2-s2.0-72449139524
2. Arrondel C., Deschênes G., le Meur Y., Viau A., Cordonnier C., Fournier A., Amadeo S., Gubler M., Antignac C., Heidet L., A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia. Kidney International 2004 65 6 2030 2040 10.1111/j.1523-1755.2004.00622.x 2-s2.0-2442672631 (Pubitemid 38669989)
3. Suh J. H., Miner J. H., The glomerular basement membrane as a barrier to albumin. Nature Reviews Nephrology 2013 9 8 470 477 10.1038/nrneph.2013.109 2-s2.0-84880925050
4. Pirson Y., Making the diagnosis of Alport's syndrome. Kidney International 1999 56 2 760 775 10.1046/j.1523-1755.1999.00601.x 2-s2.0-0032815492 (Pubitemid 29353181)
5. Kruegel J., Rubel D., Gross O., Alport syndrome-insights from basic and clinical research. Nature Reviews Nephrology 2013 9 3 170 178 10.1038/nrneph.2012.259 2-s2.0-84874662966
6. Guo Y., Yuan J., Liang H., Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing. Molecular Biology Reports 2014
7. Hudson B. G., Tryggvason K., Sundaramoorthy M., Neilson E. G., Alport's syndrome, Goodpasture's syndrome, and type IV collagen. The New England Journal of Medicine 2003 348 25 2543 2556 10.1056/NEJMra022296 2-s2.0-0038469583 (Pubitemid 36706542)
8. Bamshad M. J., Ng S. B., Bigham A. W., Tabor H. K., Emond M. J., Nickerson D. A., Shendure J., Exome sequencing as a tool for Mendelian disease gene discovery. Nature Reviews Genetics 2011 12 11 745 755 10.1038/nrg3031 2-s2.0-80054746492
9. Ku C., Cooper D. N., Polychronakos C., Naidoo N., Wu M., Soong R., Exome sequencing: Dual role as a discovery and diagnostic tool. Annals of Neurology 2012 71 1 5 14 10.1002/ana.22647 2-s2.0-84856200151
10. Becknell B., Zender G. A., Houston R., Baker P. B., McBride K. L., Luo W., Hains D. S., Borza D., Schwaderer A. L., Novel X-linked glomerulopathy is associated with a COL4A5 missense mutation in a non-collagenous interruption. Kidney International 2011 79 1 120 127 10.1038/ki.2010.354 2-s2.0-78650294701
11. Xiu X., Song Z., Gao K., Deng X., Qi Y., Zhu A., Gong L., Deng H., Genetic analysis of the FBXO48 gene in Chinese Han patients with Parkinson disease. Neuroscience Letters 2013 541 224 226 10.1016/j.neulet.2013.02.031 2-s2.0-84876419007
12. Chen Z., Wang J., Tang B., Sun Z., Shi Y., Shen L., Lei L., Wei X., Xiao J., Hu Z., Pan Q., Xia K., Zhang Q., Dai M., Liu Y., Ashizawa T., Jiang H., Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders. Neurobiology of Aging 2013 34 10 2442.e11 2442.e17 10.1016/j.neurobiolaging.2013.04.029 2-s2.0-84879885081
13. Guo Y., Yuan L., Yi J., Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing. Indian Journal of Biochemistry & Biophysics 2013 50 4 253 258
14. Li R., Li Y., Kristiansen K., Wang J., SOAP: short oligonucleotide alignment program. Bioinformatics 2008 24 5 713 714 10.1093/bioinformatics/ btn025 2-s2.0-40049104732 (Pubitemid 351321217)
15. Gilissen C., Arts H. H., Hoischen A., Spruijt L., Mans D. A., Arts P., Van Lier B., Steehouwer M., Van Reeuwijk J., Kant S. G., Roepman R., Knoers N. V. A. M., Veltman J. A., Brunner H. G., Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. The American Journal of Human Genetics 2010 87 3 418 423 10.1016/j.ajhg.2010.08.004 2-s2.0-77956393882
16. Gross O., Kashtan C. E., Treatment of Alport syndrome: beyond animal models. Kidney International 2009 76 6 599 603 10.1038/ki.2009.223 2-s2.0-69549089909
17. Heidet L., Gubler M., The renal lesions of Alport syndrome. Journal of the American Society of Nephrology 2009 20 6 1210 1215 10.1681/ASN.2008090984 2-s2.0-67449106523
18. Artuso R., Fallerini C., Dosa L., Scionti F., Clementi M., Garosi G., Massella L., Epistolato M. C., Mancini R., Mari F., Longo I., Ariani F., Renieri A., Bruttini M., Advances in Alport syndrome diagnosis using next-generation sequencing. European Journal of Human Genetics 2012 20 1 50 57 10.1038/ejhg.2011.164 2-s2.0-83255185118
19. Zhou J., Hertz J. M., Leinonen A., Tryggvason K., Complete amino acid sequence of the human α 5(IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient. The Journal of Biological Chemistry 1992 267 18 12475 12481 2-s2.0-0026765405
20. Wang Q., Liu F., Xing Y., Wei X., Li H., Zhang S., Liu J., Tang Z., Liu M., Mutation c.359-363delGTATTinsATAC in the COL4A5 Causes alport syndrome in a Chinese family. Gene 2013 512 2 482 485 10.1016/j.gene.2012.10.014 2-s2.0-84870367506
21. Šlajpah M., Gorinšek B., Berginc G., Vizjak A., Ferluga D., Hvala A., Meglič A., Jakša I., Furlan P., Gregorič A., Kaplan-Pavlovčič Š., Ravnik-Glavač M., Glavač D., Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria. Kidney International 2007 71 12 1287 1295 10.1038/sj.ki.5002221 2-s2.0-34250024044 (Pubitemid 46884250)
22. Demosthenous P., Voskarides K., Stylianou K., Hadjigavriel M., Arsali M., Patsias C., Georgaki E., Zirogiannis P., Stavrou C., Daphnis E., Pierides A., Deltas C., X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5. Clinical Genetics 2012 81 3 240 248 10.1111/j.1399-0004.2011.01647.x 2-s2.0-84856464472
23. Zehnder A. F., Adams J. C., Santi P. A., Kristiansen A. G., Wacharasindhu C., Mann S., Kalluri R., Gregory M. C., Kashtan C. E., Merchant S. N., X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5. Archives of Otolaryngology-Head and Neck Surgery 2005 131 11 1007 1013 10.1001/archotol.131. 11.1007 2-s2.0-28144465642 (Pubitemid 41696397)
24. Chen Y. M., Miner J. H., Glomerular basement membrane and related glomerular disease. Translational Research 2012 160 4 291 297 10.1016/j.trsl.2012.03.004 2-s2.0-84866379252
25. Wilson J. C., Yoon H., Walker R. J., Eccles M. R., A novel Cys1638Tyr NC1 domain substitution in α 5(IV) collagen causes Alport syndrome with late onset renal failure without hearing loss or eye abnormalities. Nephrology Dialysis Transplantation 2007 22 5 1338 1346 10.1093/ndt/gfl793 2-s2.0-34447515630 (Pubitemid 47072221)
26. Gross O., Beirowski B., Koepke M., Kuck J., Reiner M., Addicks K., Smyth N., Schulze-Lohoff E., Weber M., Preemptive ramipril therapy delays renal failure and reduces renal fibrosis in COL4A3 -knockout mice with Alport syndrome. Kidney International 2003 63 2 438 446 10.1046/j.1523-1755.2003.00779. x 2-s2.0-0037248954 (Pubitemid 36126790)
27. Lees G. E., Kidney diseases caused by glomerular basement membrane type IV collagen defects in dogs. Journal of Veterinary Emergency and Critical Care 2013 23 2 184 193 10.1111/vec.12031 2-s2.0-84876104930
28. Cox M. L., Lees G. E., Kashtan C. E., Murphy K. E., Genetic cause of X-linked Alport syndrome in a family of domestic dogs. Mammalian Genome 2003 14 6 396 403 10.1007/s00335-002-2253-9 2-s2.0-0037682256 (Pubitemid 36623547)