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dc.contributor.authorCrawford, Joanna
dc.contributor.authorBower, Neil I
dc.contributor.authorHogan, Benjamin M
dc.contributor.authorTaft, Ryan J
dc.contributor.authorGabbett, Michael T
dc.contributor.authorMcGaughran, Julie
dc.contributor.authorSimons, Cas
dc.date.accessioned2021-07-14T00:12:28Z
dc.date.available2021-07-14T00:12:28Z
dc.date.issued2016
dc.identifier.issn1552-4825en_US
dc.identifier.doi10.1002/ajmg.a.37803en_US
dc.identifier.urihttp://hdl.handle.net/10072/405929
dc.description.abstractHennekam lymphangiectasia–lymphedema syndrome is an autosomal recessive disorder, with 25% of patients having mutations in CCBE1. We identified a family with two brothers presenting with primary lymphedema, and performed exome sequencing to determine the cause of their disease. Analysis of four family members showed that both affected brothers had the same rare compound heterozygous mutations in CCBE1. The presumed paternally inherited NM_133459.3:c.310G>A; p.(Asp104Asn), lies adjacent to other known pathogenic CCBE1 mutations, while the maternally inherited NM_133459.3:c.80T>C; p.(Leu27Pro) lies in the CCBE1 signal peptide, which has not previously been associated with disease. Functional analysis in a zebrafish model of lymphatic disease showed that both mutations lead to CCBE1 loss of function, confirming the pathogenicity of these variants and expanding the genotypic spectrum of lymphatic disorders.en_US
dc.description.peerreviewedYesen_US
dc.languageEnglishen_US
dc.publisherJohn Wiley & Sonsen_US
dc.relation.ispartofpagefrom2694en_US
dc.relation.ispartofpageto2697en_US
dc.relation.ispartofissue10en_US
dc.relation.ispartofjournalAmerican Journal of Medical Genetics Part Aen_US
dc.relation.ispartofvolume170en_US
dc.subject.fieldofresearchGeneticsen_US
dc.subject.fieldofresearchClinical Sciencesen_US
dc.subject.fieldofresearchcode0604en_US
dc.subject.fieldofresearchcode1103en_US
dc.subject.keywordsScience & Technologyen_US
dc.subject.keywordsLife Sciences & Biomedicineen_US
dc.subject.keywordsGenetics & Heredityen_US
dc.subject.keywordsHennekam syndromeen_US
dc.subject.keywordslymphedemaen_US
dc.titleExpanding the genotypic spectrum of CCBE1 mutations in Hennekam syndromeen_US
dc.typeJournal articleen_US
dc.type.descriptionC1 - Articlesen_US
dcterms.bibliographicCitationCrawford, J; Bower, NI; Hogan, BM; Taft, RJ; Gabbett, MT; McGaughran, J; Simons, C, Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome, American Journal of Medical Genetics Part A, 2016, 170 (10), pp. 2694-2697en_US
dcterms.dateAccepted2016-06-07
dc.date.updated2021-07-14T00:06:01Z
gro.hasfulltextNo Full Text
gro.griffith.authorGabbett, Michael T.


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