TY - JOUR
T1 - Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-γ receptor 1 deficiency
AU - Prando, Carolina
AU - Boisson-Dupuis, Stéphanie
AU - Grant, Audrey V.
AU - Kong, Xiao Fei
AU - Bustamante, Jacinta
AU - Feinberg, Jacqueline
AU - Chapgier, Ariane
AU - Rose, Yoann
AU - Jannière, Lucile
AU - Rizzardi, Elena
AU - Zhang, Qiuping
AU - Shanahan, Catherine M.
AU - Viollet, Louis
AU - Lyonnet, Stanislas
AU - Abel, Laurent
AU - Ruga, Ezia Maria
AU - Casanova, Jean Laurent
PY - 2010/3
Y1 - 2010/3
N2 - 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.
AB - 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.
KW - IFN-γ
KW - Mycobacterium
KW - Uniparental disomy
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U2 - 10.1002/ajmg.a.33291
DO - 10.1002/ajmg.a.33291
M3 - Article
C2 - 20186794
AN - SCOPUS:77649229733
SN - 1552-4825
VL - 152
SP - 622
EP - 629
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 3
ER -