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

Date

2012

Authors

Lynch, S.
Nguyen, L.
Ng, L.
Waldron, M.
McDonald, D.
Gecz, J.

Editors

Advisors

Journal Title

Journal ISSN

Volume Title

Type:

Journal article

Citation

European Journal of Medical Genetics, 2012; 55(8-9):476-479

Statement of Responsibility

Sally Ann Lynch, Lam Son Nguyen, Li Yen Ng, Mary Waldron, Denise McDonald and Jozef Gecz

Conference Name

DOI

10.1016/j.ejmg.2012.03.010

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.

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Dissertation Note

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© 2012 Elsevier Masson SAS. All rights reserved

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Published Version

https://doi.org/10.1016/j.ejmg.2012.03.010

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Persistent link to this record

http://hdl.handle.net/2440/73849