File Download

There are no files associated with this item.

  Links for fulltext
     (May Require Subscription)
Supplementary

Article: Centrosome-associated CDC25B is a novel disease-causing gene for a syndrome with cataracts, dilated cardiomyopathy, and multiple endocrinopathies

TitleCentrosome-associated CDC25B is a novel disease-causing gene for a syndrome with cataracts, dilated cardiomyopathy, and multiple endocrinopathies
Authors
Keywordscase report
cataract
CDC25B gene
centrosome
child
Issue Date2020
PublisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca
Citation
Clinica Chimica Acta, 2020, v. 504, p. 81-87 How to Cite?
AbstractWe describe a unique Chinese girl who presented with intrauterine growth retardation, delayed development, bilateral cataracts, hypothyroidism, growth hormone deficiency, and juvenile dilated cardiomyopathy. She was born to consanguineous parents with a history of one fetal and one infantile death in the family. She died from cardiac failure at the age of 12. In the pursuit of a diagnosis, the family was referred to the Clinics for Rare Diseases Referral and the University of Hong Kong Undiagnosed Disease Program. Whole-exome sequencing analysis revealed a homozygous non-sense variant, NM_021873:c.313G > T (p.Glu105*), in the CDC25B gene, a key regulator of the cell cycle. This variant was located in a region of homozygosity of 25 Mb on chromosome 20. Her parents and two asymptomatic sisters were confirmed to be carriers and one brother did not carry the variant. This is the first report of a natural human knockout of the CDC25B gene. Multiple endocrinopathies and fatal juvenile dilated cardiomyopathy suggests the potential for unfavorable complications in oncology patients receiving CDC25B inhibitors as an emerging targeted therapy.
Persistent Identifierhttp://hdl.handle.net/10722/287113
ISSN
2019 Impact Factor: 2.615
2015 SCImago Journal Rankings: 1.040

 

DC FieldValueLanguage
dc.contributor.authorLam, CW-
dc.contributor.authorFong, NC-
dc.contributor.authorChan, TYC-
dc.contributor.authorLau, KC-
dc.contributor.authorLing, TK-
dc.contributor.authorMak, DWY-
dc.contributor.authorCheng, X-
dc.contributor.authorLaw, CY-
dc.date.accessioned2020-09-22T02:55:56Z-
dc.date.available2020-09-22T02:55:56Z-
dc.date.issued2020-
dc.identifier.citationClinica Chimica Acta, 2020, v. 504, p. 81-87-
dc.identifier.issn0009-8981-
dc.identifier.urihttp://hdl.handle.net/10722/287113-
dc.description.abstractWe describe a unique Chinese girl who presented with intrauterine growth retardation, delayed development, bilateral cataracts, hypothyroidism, growth hormone deficiency, and juvenile dilated cardiomyopathy. She was born to consanguineous parents with a history of one fetal and one infantile death in the family. She died from cardiac failure at the age of 12. In the pursuit of a diagnosis, the family was referred to the Clinics for Rare Diseases Referral and the University of Hong Kong Undiagnosed Disease Program. Whole-exome sequencing analysis revealed a homozygous non-sense variant, NM_021873:c.313G > T (p.Glu105*), in the CDC25B gene, a key regulator of the cell cycle. This variant was located in a region of homozygosity of 25 Mb on chromosome 20. Her parents and two asymptomatic sisters were confirmed to be carriers and one brother did not carry the variant. This is the first report of a natural human knockout of the CDC25B gene. Multiple endocrinopathies and fatal juvenile dilated cardiomyopathy suggests the potential for unfavorable complications in oncology patients receiving CDC25B inhibitors as an emerging targeted therapy.-
dc.languageeng-
dc.publisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca-
dc.relation.ispartofClinica Chimica Acta-
dc.subjectcase report-
dc.subjectcataract-
dc.subjectCDC25B gene-
dc.subjectcentrosome-
dc.subjectchild-
dc.titleCentrosome-associated CDC25B is a novel disease-causing gene for a syndrome with cataracts, dilated cardiomyopathy, and multiple endocrinopathies-
dc.typeArticle-
dc.identifier.emailLam, CW: ching-wanlam@pathology.hku.hk-
dc.identifier.emailLing, TK: tkling26@HKUCC-COM.hku.hk-
dc.identifier.authorityLam, CW=rp00260-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1016/j.cca.2020.01.017-
dc.identifier.pmid32027886-
dc.identifier.scopuseid_2-s2.0-85079072572-
dc.identifier.hkuros314509-
dc.identifier.volume504-
dc.identifier.spage81-
dc.identifier.epage87-
dc.publisher.placeNetherlands-

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats