Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia

被引:139
作者
Bolze, Alexandre [1 ,2 ]
Mahlaoui, Nizar [3 ]
Byun, Minji [1 ]
Turner, Bridget [4 ]
Trede, Nikolaus [4 ]
Ellis, Steven R. [5 ]
Abhyankar, Avinash [1 ]
Itan, Yuval [1 ]
Patin, Etienne [6 ]
Brebner, Samuel [1 ]
Sackstein, Paul [1 ]
Puel, Anne [2 ,7 ]
Picard, Capucine [2 ,7 ,8 ]
Abel, Laurent [1 ,2 ,7 ]
Quintana-Murci, Lluis [6 ]
Faust, Saul N. [9 ,10 ,11 ]
Williams, Anthony P. [10 ,11 ,12 ]
Baretto, Richard [13 ]
Duddridge, Michael [13 ]
Kini, Usha [14 ]
Pollard, Andrew J. [15 ,16 ]
Gaud, Catherine [17 ]
Frange, Pierre [18 ,19 ]
Orbach, Daniel [20 ]
Emile, Lean-Francois [21 ,22 ]
Stephan, Jean-Louis [23 ]
Sorensen, Ricardo [24 ,25 ]
Plebani, Alessandro [26 ,27 ]
Hammarstrom, Lennart [28 ]
Conley, Mary Ellen [29 ]
Selleri, Licia [30 ]
Casanova, Jean-Laurent [1 ,2 ,7 ,18 ]
机构
[1] Rockefeller Univ, St Giles Lab Human Genet Infect Dis, New York, NY 10065 USA
[2] Univ Paris 05, Imagine Inst, Sorbonne Paris Cite, F-75006 Paris, France
[3] Hop Necker Enfants Malad, French Natl Reference Ctr Primary Immune Deficien, Pediat Hematol Immunol & Rheumatol Unit, F-75015 Paris, France
[4] Univ Utah, Huntsman Canc Inst, Salt Lake City, UT 84112 USA
[5] Univ Louisville, Dept Biochem & Mol Biol, Louisville, KY 40202 USA
[6] Inst Pasteur, Dept Genomes & Genet, Unit Human Evolutionary Genet, CNRS,URA3012, F-75015 Paris, France
[7] INSERM, Lab Human Genet Infect Dis, U980, Necker Branch, F-75015 Paris, France
[8] Hop Necker Enfants Malad, AP HP, Study Ctr Primary Immunodeficiency, F-75015 Paris, France
[9] Univ Hosp Southampton NHS Fdn Trust, NIHR Wellcome Trust Clin Res Facil, Southampton S016 6YD, Hants, England
[10] Univ Southampton, Fac Med, Southampton S016 6YD, Hants, England
[11] Univ Southampton, Inst Life Sci, Southampton S016 6YD, Hants, England
[12] Univ Hosp Southampton NHS Fdn Trust, Southampton S016 6YD, Hants, England
[13] Univ Hosp Leicester NHS Trust, Dept Immunol, Leicester LE1 5WW, Leics, England
[14] Oxford Univ Hosp NHS Trust, Dept Clin Genet, Oxford OX3 7LE, England
[15] Univ Oxford, Dept Pediat, Oxford OX3 9DU, England
[16] NIHR Oxford Biomed Res Ctr, Oxford OX3 9DU, England
[17] CHU Reunion Site Nord, Dept Clin Immunol, F-97405 St Denis, Reunion, France
[18] Hop Necker Enfants Malad, AP HP, Pediat Immunol Hematol Unit, F-75015 Paris, France
[19] Univ Paris 05, EA 3620, Sorbonne Paris Cite, F-75015 Paris, France
[20] Inst Curie, Dept Pediat, F-75005 Paris, France
[21] Univ Versailles SOY, EA 4340, F-92104 Boulogne, France
[22] Hop Ambroise Pare, AP HP, F-92104 Boulogne, France
[23] CHU Nord, Dept Pediat, F-42055 St Etienne, France
[24] Louisiana State Univ, Dept Pediat, Hlth Sci Ctr, Jeffrey Modell Diagnost Ctr Primary Immunodeficie, New Orleans, LA 70118 USA
[25] Childrens Hosp, New Orleans, LA 70118 USA
[26] Univ Brescia, Spedali Civili Brescia, Dept Pediat, I-25123 Brescia, Italy
[27] Univ Brescia, Spedali Civili Brescia, Inst Mol Med A Nocivelti, I-25123 Brescia, Italy
[28] Karolinska Univ Hosp Huddnge, Dept Lab Med, Div Clin Immunol, Karolinska Inst, SE-14186 Stockholm, Sweden
[29] Univ Tennessee, Coll Med, Dept Pediat, Memphis, TN 38101 USA
[30] Cornell Univ, Dept Cell & Dev Biol, Weill Med Coll, New York, NY 10065 USA
关键词
MUTATIONS;
D O I
10.1126/science.1234864
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
Isolated congenital asplenia (ICA) is characterized by the absence of a spleen at birth in individuals with no other developmental defects. The patients are prone to life-threatening bacterial infections. The unbiased analysis of exomes revealed heterozygous mutations in RPSA in 18 patients from eight kindreds, corresponding to more than half the patients and over one-third of the kindreds studied. The clinical penetrance in these kindreds is complete. Expression studies indicated that the mutations carried by the patients-a nonsense mutation, a frameshift duplication, and five different missense mutations-cause autosomal dominant ICA by haploinsufficiency. RPSA encodes ribosomal protein SA, a component of the small subunit of the ribosome. This discovery establishes an essential rote for RPSA in human spleen development.
引用
收藏
页码:976 / 978
页数:3
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