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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.issn1552-4825
dc.identifier.doi10.1002/ajmg.a.37803
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.
dc.description.peerreviewedYes
dc.languageEnglish
dc.publisherJohn Wiley & Sons
dc.relation.ispartofpagefrom2694
dc.relation.ispartofpageto2697
dc.relation.ispartofissue10
dc.relation.ispartofjournalAmerican Journal of Medical Genetics Part A
dc.relation.ispartofvolume170
dc.subject.fieldofresearchGenetics
dc.subject.fieldofresearchClinical sciences
dc.subject.fieldofresearchcode3105
dc.subject.fieldofresearchcode3202
dc.subject.keywordsScience & Technology
dc.subject.keywordsLife Sciences & Biomedicine
dc.subject.keywordsGenetics & Heredity
dc.subject.keywordsHennekam syndrome
dc.subject.keywordslymphedema
dc.titleExpanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome
dc.typeJournal article
dc.type.descriptionC1 - Articles
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. 2694-2697
dcterms.dateAccepted2016-06-07
dc.date.updated2021-07-14T00:06:01Z
gro.hasfulltextNo Full Text
gro.griffith.authorGabbett, Michael T.


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