TY - JOUR
T1 - Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR
AU - Proust, Alexis
AU - Guillet, Benoît
AU - Picard, Capucine
AU - de Saint Basile, Geneviève
AU - Pondarré, Corinne
AU - Tamary, Hannah
AU - Dreyfus, Marie
AU - Tchernia, Gil
AU - Fischer, Alain
AU - Delaunay, Jean
N1 - Funding Information:
This work was supported by the Service d'Hématologie, d'Immunologie et de Cytogénétique, Hôpital de Bicêtre, AP-HP, France. We thank Drs F. Berthet, S. Blanche, P. Bordigoni, F. Cartault, J.-L. Casanova, A. Coeslier, C. Coubes, E. Gatbois, C. Hoyoux, J. Landman-Parker, N. Lenoir-Debru, N. Malhaoui, B. Neven, and J.-P. Vannier for referring their patients and establishing their scores to us.
PY - 2007/7
Y1 - 2007/7
N2 - The Wiskott-Aldrich syndrome (WAS) is an X-linked disorder including microthrombocytopenia, eczema and immunodeficiency. A mild form is known as the X-linked thrombocytopenia (XLT). We screened 150 individuals or families based on a multiplex PCR method. We found 28 novel mutations (7 missense, 1 nonsense, 1 nonstop change, 5 splice site mutations and 14 deletions or insertions). The method relied on the co-synthesis of 5 amplicons and direct sequencing, optimizing the novel protocol proposed by Jones et al. [L.N. Jones, M.I. Lutskiy, J. Cooley, et al. A novel protocol to identify mutations in patients with Wiskott-Aldrich syndrome, Blood Cells Mol. Dis. 28 (2002) 392-398]. It was thus possible to identify faster and at a lower cost the mutations in newly diagnosed patients. The mutation distribution, according to the type, was in keeping with the distribution reported previously. No clear-cut genotype-phenotype correlation was observed.
AB - The Wiskott-Aldrich syndrome (WAS) is an X-linked disorder including microthrombocytopenia, eczema and immunodeficiency. A mild form is known as the X-linked thrombocytopenia (XLT). We screened 150 individuals or families based on a multiplex PCR method. We found 28 novel mutations (7 missense, 1 nonsense, 1 nonstop change, 5 splice site mutations and 14 deletions or insertions). The method relied on the co-synthesis of 5 amplicons and direct sequencing, optimizing the novel protocol proposed by Jones et al. [L.N. Jones, M.I. Lutskiy, J. Cooley, et al. A novel protocol to identify mutations in patients with Wiskott-Aldrich syndrome, Blood Cells Mol. Dis. 28 (2002) 392-398]. It was thus possible to identify faster and at a lower cost the mutations in newly diagnosed patients. The mutation distribution, according to the type, was in keeping with the distribution reported previously. No clear-cut genotype-phenotype correlation was observed.
KW - Multiplex PCR
KW - Novel mutations
KW - WAS gene
KW - Wiskott-Aldrich syndrome
KW - X-linked thrombocytopenia
UR - http://www.scopus.com/inward/record.url?scp=34249035154&partnerID=8YFLogxK
U2 - 10.1016/j.bcmd.2007.02.007
DO - 10.1016/j.bcmd.2007.02.007
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C2 - 17400488
AN - SCOPUS:34249035154
VL - 39
SP - 102
EP - 106
JO - Blood Cells, Molecules, and Diseases
JF - Blood Cells, Molecules, and Diseases
SN - 1079-9796
IS - 1
ER -