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Article: Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children

TitleClinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children
Authors
Issue Date2011
PublisherInforma Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/0886022x.asp
Citation
Renal Failure, 2011, v. 33 n. 9, p. 910-914 How to Cite?
AbstractDenys-Drash syndrome (DDS) is characterized by early onset of nephropathy, genitalia malformation, and Wilms' tumor, where WT1 is the gene that is mutated in most patients. We report two de novo mutations in WT1 found in two Chinese DDS children. Patient 1 was a boy with complete DDS who was presented with progressive nephropathy, unilateral Wilms' tumor, bilateral cryptorchidism, and renal histology showing diffuse mesangial sclerosis (DMS). When the patient was 24 months old, a liver ultrasound showed multiple nodules, and the patient died of pneumonia 1 month later. The de novo novel mutation, c.1130A>T (p.His377Leu), was identified; the mutation replaces histidine with leucine in the zinc finger (Znf) structure and is predicted to change the local spatial structure of the protein. Patient 2 had 46 XX with incomplete DDS and presented with normal genitalia, proteinuria, unilateral Wilms' tumor with renal pedicle lymph node metastasis, and renal histology showing DMS. Her renal function remains normal after 48 months. A de novo mutation, c.1168C>T (p.Arg390Term), was identified; it truncates 60 amino acids at the C terminus, and it is predicted to result in loss of the DNA-binding capacities of the WT1 protein.
Persistent Identifierhttp://hdl.handle.net/10722/169243
ISSN
2015 Impact Factor: 0.875
2015 SCImago Journal Rankings: 0.471
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorYue, Zen_US
dc.contributor.authorPei, Yen_US
dc.contributor.authorSun, Len_US
dc.contributor.authorHuang, Wen_US
dc.contributor.authorHuang, Hen_US
dc.contributor.authorHu, Ben_US
dc.contributor.authorYang, Jen_US
dc.contributor.authorJiang, Xen_US
dc.contributor.authorMo, Yen_US
dc.contributor.authorChen, Sen_US
dc.contributor.authorLai, KNen_US
dc.contributor.authorWang, Yen_US
dc.date.accessioned2012-10-18T08:47:05Z-
dc.date.available2012-10-18T08:47:05Z-
dc.date.issued2011en_US
dc.identifier.citationRenal Failure, 2011, v. 33 n. 9, p. 910-914en_US
dc.identifier.issn0886-022X-
dc.identifier.urihttp://hdl.handle.net/10722/169243-
dc.description.abstractDenys-Drash syndrome (DDS) is characterized by early onset of nephropathy, genitalia malformation, and Wilms' tumor, where WT1 is the gene that is mutated in most patients. We report two de novo mutations in WT1 found in two Chinese DDS children. Patient 1 was a boy with complete DDS who was presented with progressive nephropathy, unilateral Wilms' tumor, bilateral cryptorchidism, and renal histology showing diffuse mesangial sclerosis (DMS). When the patient was 24 months old, a liver ultrasound showed multiple nodules, and the patient died of pneumonia 1 month later. The de novo novel mutation, c.1130A>T (p.His377Leu), was identified; the mutation replaces histidine with leucine in the zinc finger (Znf) structure and is predicted to change the local spatial structure of the protein. Patient 2 had 46 XX with incomplete DDS and presented with normal genitalia, proteinuria, unilateral Wilms' tumor with renal pedicle lymph node metastasis, and renal histology showing DMS. Her renal function remains normal after 48 months. A de novo mutation, c.1168C>T (p.Arg390Term), was identified; it truncates 60 amino acids at the C terminus, and it is predicted to result in loss of the DNA-binding capacities of the WT1 protein.-
dc.languageengen_US
dc.publisherInforma Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/0886022x.asp-
dc.relation.ispartofRenal Failureen_US
dc.rightsRenal Failure. Copyright © Informa Healthcare.-
dc.subject.meshDenys-Drash Syndrome - genetics - pathology - therapy-
dc.subject.meshGenetic Predisposition to Disease-
dc.subject.meshKidney Neoplasms - diagnosis - genetics - surgery-
dc.subject.meshMutation-
dc.subject.meshWT1 Proteins - genetics-
dc.titleClinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese childrenen_US
dc.typeArticleen_US
dc.identifier.emailLai, KN: knlai@hku.hken_US
dc.identifier.authorityLai, KN=rp00324en_US
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.3109/0886022X.2011.605528-
dc.identifier.pmid21851196-
dc.identifier.scopuseid_2-s2.0-80053499250-
dc.identifier.hkuros211516en_US
dc.identifier.volume33en_US
dc.identifier.issue9en_US
dc.identifier.spage910en_US
dc.identifier.epage914en_US
dc.identifier.isiWOS:000295339700012-
dc.publisher.placeUnited States-

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