How to cite this article: Prando C, Boisson-Dupuis S, Grant A, Kong X-F, Bustamante J, Feinberg J, Chapgier A, Rose Y, Jannière L, Rizzardi E, Zhang Q, Shanahan CM, Viollet L, Lyonnet S, Abel L, Ruga EM, Casanova J-L. 2010. Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-γ receptor 1 deficiency. Am J Med Genet Part A 152A:622–629.
Article first published online: 22 FEB 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 152A, Issue 3, pages 622–629, March 2010
How to Cite
Prando, C., Boisson-Dupuis, S., Grant, A. V., Kong, X.-F., Bustamante, J., Feinberg, J., Chapgier, A., Rose, Y., Jannière, L., Rizzardi, E., Zhang, Q., Shanahan, C. M., Viollet, L., Lyonnet, S., Abel, L., Ruga, E. M. and Casanova, J.-L. (2010), Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-γ receptor 1 deficiency. Am. J. Med. Genet., 152A: 622–629. doi: 10.1002/ajmg.a.33291
Stéphanie Boisson-Dupuis, Audrey Grant, Authors made an Equal Contribution.
- Issue published online: 22 FEB 2010
- Article first published online: 22 FEB 2010
- Manuscript Accepted: 28 NOV 2009
- Manuscript Received: 31 AUG 2009
- Rockefeller University Center for Clinical and Translational Science. Grant Number: 5UL1RR024143-03
- Rockefeller University
- uniparental disomy;
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare primary immunodeficiency associated with clinical disease caused by weakly virulent mycobacterial species. Interferon gamma receptor 1 (IFN-γR1) deficiency is a genetic etiology of MSMD. We describe the clinical and genetic features of a 7-year-old Italian boy suffering from MSMD associated with a complex phenotype, including neonatal hyperglycemia, neuromuscular disease, and dysmorphic features. The child also developed necrotizing pneumonia caused by Rhodococcus equi. The child is homozygous for a nonsense mutation in exon 3 of IFNGR1 as a result of paternal uniparental disomy (UPD) of the entire chromosome 6. This is the first reported case of uniparental disomy resulting in a complex phenotype including MSMD. © 2010 Wiley-Liss, Inc.