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Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/73849

Type: Journal article
Title: Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay
Author: Lynch, S.
Nguyen, L.
Ng, L.
Waldron, M.
McDonald, D.
Gecz, J.
Citation: European Journal of Medical Genetics, 2012; 55(8-9):476-479
Publisher: Editions Scientifiques Medicales Elsevier
Issue Date: 2012
ISSN: 1769-7212
1878-0849
Statement of
Responsibility: 
Sally Ann Lynch, Lam Son Nguyen, Li Yen Ng, Mary Waldron, Denise McDonald and Jozef Gecz
Abstract: We 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.
Keywords: Kidney; Humans; Abnormalities, Multiple; RNA-Binding Proteins; Codon, Nonsense; DNA Mutational Analysis; Developmental Disabilities; Base Sequence; Phenotype; Child; Male
Rights: © 2012 Elsevier Masson SAS. All rights reserved
RMID: 0020121015
DOI: 10.1016/j.ejmg.2012.03.010
Appears in Collections:Paediatrics publications
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