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Article: Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria

TitleHeterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria
Authors
Issue Date2006
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ki/index.html
Citation
Kidney International, 2006, v. 69 n. 1, p. 123-128 How to Cite?
AbstractCystinuria is a recessively inherited aminoaciduria that leads to recurrent urolithiasis. It is caused by the defective transport of cystine and dibasic amino acids in the proximal renal tubules and intestinal epithelium. Two genes responsible for this, SLC3A1 and SLC7A9, are known. Patients with two SLC3A1 mutations are classified as type A cystinuria, whereas patients with two SLC7A9 mutations are classified as type B cystinuria. Few clinical and molecular data have been reported for Asian cystinuria patients. In this study, we determined the molecular basis of cystinuria in eight unrelated Chinese subjects. Coding exons and flanking introns of the SLC3A1 and SLC7A9 genes were directly sequenced after amplification by polymerase chain reaction. Five different SLC3A1 mutations were found. Two missense mutations, D210G and S547L, were novel. The other three SLC3A1 mutations (IVS6 + 2T > C, R181Q and R365W) have been described previously. In addition, four novel SLC7A9 mutations, C137R, c.730delG, IVS10 + 2_3delTG and IVS12 + 3insT, together with two previously reported mutations (A70V and G195R) were found. All patients except one carried compound heterozygous mutations. IVS12 + 3insT was detected in patients from two families. This is the first molecular genetic study on Chinese cystinuria patients. Three patients with type A cystinuria, two with type B cystinuria, and three carriers of type B cystinuria were identified. Our results suggest that the molecular basis of cystinuria is heterogeneous in our local population. © 2006 International Society of Nephrology.
Persistent Identifierhttp://hdl.handle.net/10722/148443
ISSN
2015 Impact Factor: 7.683
2015 SCImago Journal Rankings: 3.181
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorYuen, YPen_US
dc.contributor.authorLam, CWen_US
dc.contributor.authorLai, CKen_US
dc.contributor.authorTong, SFen_US
dc.contributor.authorLi, PSen_US
dc.contributor.authorTam, Sen_US
dc.contributor.authorKwan, EYWen_US
dc.contributor.authorChan, SYen_US
dc.contributor.authorTsang, WKen_US
dc.contributor.authorChan, KYen_US
dc.contributor.authorMak, WLen_US
dc.contributor.authorCheng, CWen_US
dc.contributor.authorChan, YWen_US
dc.date.accessioned2012-05-29T06:13:01Z-
dc.date.available2012-05-29T06:13:01Z-
dc.date.issued2006en_US
dc.identifier.citationKidney International, 2006, v. 69 n. 1, p. 123-128en_US
dc.identifier.issn0085-2538en_US
dc.identifier.urihttp://hdl.handle.net/10722/148443-
dc.description.abstractCystinuria is a recessively inherited aminoaciduria that leads to recurrent urolithiasis. It is caused by the defective transport of cystine and dibasic amino acids in the proximal renal tubules and intestinal epithelium. Two genes responsible for this, SLC3A1 and SLC7A9, are known. Patients with two SLC3A1 mutations are classified as type A cystinuria, whereas patients with two SLC7A9 mutations are classified as type B cystinuria. Few clinical and molecular data have been reported for Asian cystinuria patients. In this study, we determined the molecular basis of cystinuria in eight unrelated Chinese subjects. Coding exons and flanking introns of the SLC3A1 and SLC7A9 genes were directly sequenced after amplification by polymerase chain reaction. Five different SLC3A1 mutations were found. Two missense mutations, D210G and S547L, were novel. The other three SLC3A1 mutations (IVS6 + 2T > C, R181Q and R365W) have been described previously. In addition, four novel SLC7A9 mutations, C137R, c.730delG, IVS10 + 2_3delTG and IVS12 + 3insT, together with two previously reported mutations (A70V and G195R) were found. All patients except one carried compound heterozygous mutations. IVS12 + 3insT was detected in patients from two families. This is the first molecular genetic study on Chinese cystinuria patients. Three patients with type A cystinuria, two with type B cystinuria, and three carriers of type B cystinuria were identified. Our results suggest that the molecular basis of cystinuria is heterogeneous in our local population. © 2006 International Society of Nephrology.en_US
dc.languageengen_US
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ki/index.htmlen_US
dc.relation.ispartofKidney Internationalen_US
dc.subject.meshAdulten_US
dc.subject.meshAmino Acid Transport Systems, Basic - Geneticsen_US
dc.subject.meshAmino Acid Transport Systems, Neutral - Geneticsen_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshCystine - Metabolismen_US
dc.subject.meshCystinuria - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshInfant, Newbornen_US
dc.subject.meshMaleen_US
dc.subject.meshMutationen_US
dc.titleHeterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuriaen_US
dc.typeArticleen_US
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1038/sj.ki.5000003en_US
dc.identifier.pmid16374432-
dc.identifier.scopuseid_2-s2.0-30944454883en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-30944454883&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume69en_US
dc.identifier.issue1en_US
dc.identifier.spage123en_US
dc.identifier.epage128en_US
dc.identifier.isiWOS:000234386700027-
dc.publisher.placeUnited Kingdomen_US

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