Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay

Simple item page
dc.contributor.authorLynch, S.
dc.contributor.authorNguyen, L.
dc.contributor.authorNg, L.
dc.contributor.authorWaldron, M.
dc.contributor.authorMcDonald, D.
dc.contributor.authorGecz, J.
dc.date.issued2012
dc.description.abstractWe present two brothers with mutations in UPF3B, an X-linked intellectual disability gene. Our family consists of two affected brothers and a carrier mother. Both affected brothers had renal dysplasia. A maternal uncle died from a congenital heart defect at 4 months. The two boys had variable degrees of developmental delay. One had macrocephaly, significant expressive speech delay and constipation. The other brother had normocephaly, obsessional tendencies and was diagnosed with high functioning autism. The phenotypically normal mother had 100% skewed X-inactivation. Our cases expand the phenotype seen with UPF3B mutations and highlight the variability within families.
dc.description.statementofresponsibilitySally Ann Lynch, Lam Son Nguyen, Li Yen Ng, Mary Waldron, Denise McDonald and Jozef Gecz
dc.identifier.citationEuropean Journal of Medical Genetics, 2012; 55(8-9):476-479
dc.identifier.doi10.1016/j.ejmg.2012.03.010
dc.identifier.issn1769-7212
dc.identifier.issn1878-0849
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]
dc.identifier.urihttp://hdl.handle.net/2440/73849
dc.language.isoen
dc.publisherEditions Scientifiques Medicales Elsevier
dc.rights© 2012 Elsevier Masson SAS. All rights reserved
dc.source.urihttps://doi.org/10.1016/j.ejmg.2012.03.010
dc.subjectKidney
dc.subjectHumans
dc.subjectAbnormalities, Multiple
dc.subjectRNA-Binding Proteins
dc.subjectCodon, Nonsense
dc.subjectDNA Mutational Analysis
dc.subjectDevelopmental Disabilities
dc.subjectBase Sequence
dc.subjectPhenotype
dc.subjectChild
dc.subjectMale
dc.titleBroadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay
dc.typeJournal article
pubs.publication-statusPublished

Files

Collections

Paediatrics publications