Paternal Uniparental Isodisomy of Chromosome 6 Causing a Complex Syndrome Including Complete IFN-gamma Receptor 1 Deficiency

Carolina Prando; Stephanie Boisson-Dupuis; Audrey V. Grant; Xiao-Fei Kong; Jacinta Bustamante; Jacqueline Feinberg; Ariane Chapgier; Yoann Rose; Lucile Janniere; Elena Rizzardi; Qiuping Zhang; Catherine M. Shanahan; Louis Viollet; Stanislas Lyonnet; Laurent Abel; Ezia Maria Ruga; Jean-Laurent Casanova

doi:10.1002/ajmg.a.33291

Paternal Uniparental Isodisomy of Chromosome 6 Causing a Complex Syndrome Including Complete IFN-gamma Receptor 1 Deficiency

Carolina Prando, Stephanie Boisson-Dupuis, Audrey V. Grant, Xiao-Fei Kong, Jacinta Bustamante, Jacqueline Feinberg, Ariane Chapgier, Yoann Rose, Lucile Janniere, Elena Rizzardi, Qiuping Zhang, Catherine M. Shanahan, Louis Viollet, Stanislas Lyonnet, Laurent Abel, Ezia Maria Ruga, Jean-Laurent Casanova

Cardiovascular Sciences

Research output: Contribution to journal › Article › peer-review

22 Citations (Scopus)

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-gamma R1) 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. (C) 2010 Wiley-Liss, Inc.

Original language	English
Pages (from-to)	622 - 629
Number of pages	8
Journal	American Journal of Medical Genetics. Part A
Volume	152A
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.a.33291
Publication status	Published - Mar 2010

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Prando, C., Boisson-Dupuis, S., Grant, A. V., Kong, X.-F., Bustamante, J., Feinberg, J., Chapgier, A., Rose, Y., Janniere, L., Rizzardi, E., Zhang, Q., Shanahan, C. M., Viollet, L., Lyonnet, S., Abel, L., Ruga, E. M., & Casanova, J.-L. (2010). Paternal Uniparental Isodisomy of Chromosome 6 Causing a Complex Syndrome Including Complete IFN-gamma Receptor 1 Deficiency. American Journal of Medical Genetics. Part A, 152A(3), 622 - 629. https://doi.org/10.1002/ajmg.a.33291

@article{c8f790a117954690a482a4f6a715cbfa,

title = "Paternal Uniparental Isodisomy of Chromosome 6 Causing a Complex Syndrome Including Complete IFN-gamma Receptor 1 Deficiency",

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-gamma R1) 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. (C) 2010 Wiley-Liss, Inc.",

author = "Carolina Prando and Stephanie Boisson-Dupuis and Grant, {Audrey V.} and Xiao-Fei Kong and Jacinta Bustamante and Jacqueline Feinberg and Ariane Chapgier and Yoann Rose and Lucile Janniere and Elena Rizzardi and Qiuping Zhang and Shanahan, {Catherine M.} and Louis Viollet and Stanislas Lyonnet and Laurent Abel and Ruga, {Ezia Maria} and Jean-Laurent Casanova",

year = "2010",

month = mar,

doi = "10.1002/ajmg.a.33291",

language = "English",

volume = "152A",

pages = "622 -- 629",

journal = "American Journal of Medical Genetics. Part A",

issn = "1552-4833",

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Prando, C, Boisson-Dupuis, S, Grant, AV, Kong, X-F, Bustamante, J, Feinberg, J, Chapgier, A, Rose, Y, Janniere, 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-gamma Receptor 1 Deficiency', American Journal of Medical Genetics. Part A, vol. 152A, no. 3, pp. 622 - 629. https://doi.org/10.1002/ajmg.a.33291

TY - JOUR

T1 - Paternal Uniparental Isodisomy of Chromosome 6 Causing a Complex Syndrome Including Complete IFN-gamma Receptor 1 Deficiency

AU - Prando, Carolina

AU - Boisson-Dupuis, Stephanie

AU - Grant, Audrey V.

AU - Kong, Xiao-Fei

AU - Bustamante, Jacinta

AU - Feinberg, Jacqueline

AU - Chapgier, Ariane

AU - Rose, Yoann

AU - Janniere, 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-gamma R1) 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. (C) 2010 Wiley-Liss, Inc.

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-gamma R1) 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. (C) 2010 Wiley-Liss, Inc.

U2 - 10.1002/ajmg.a.33291

DO - 10.1002/ajmg.a.33291

M3 - Article

SN - 1552-4833

VL - 152A

SP - 622

EP - 629

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

IS - 3

ER -

Paternal Uniparental Isodisomy of Chromosome 6 Causing a Complex Syndrome Including Complete IFN-gamma Receptor 1 Deficiency

Abstract

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