Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN‐γ receptor 1 deficiency
- 22 February 2010
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 152A (3), 622-629
- https://doi.org/10.1002/ajmg.a.33291
Abstract
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.Keywords
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