caa a22 4500 475786092 CHVBK 20180406123658.0 cr unu---uuuuu 170329e20000101xx s 000 0 eng 10.1007/s004310050005 doi (NATIONALLICENCE)springer-10.1007/s004310050005 Novel mutations, no detectable mRNA and familial genetic analysis of the Wiskott-Aldrich syndrome protein gene in six Japanese patients with Wiskott-Aldrich syndrome [Elektronische Daten] [Y. Sasahara, S. Kawai, S. Kumaki, Y. Ohashi, M. Minegishi, S. Tsuchiya] The Wiskott-Aldrich syndrome (WAS) is a primary X-linked immunodeficiency disease caused by mutations of the Wiskott-Aldrich syndrome protein (WASP) gene. The present molecular studies of six Japanese WAS patients identified five different mutations of WASP, including two novel mutations (45delG, 395insGGAGAT), the latter appearing to have occurred de novo. Familial carriers were detected by polymerase chain reaction-single strand conformational polymorphism analysis, restriction enzyme digestion and direct sequencing of PCR products. Neither mRNA nor the protein product were detectable in any of the patients, while various amounts of WASP protein were expressed in carriers, normal controls, haematopoietic cell lines of all lineages and in one patient after receiving allogeneic bone marrow transplantation. Conclusion Genetic and protein analysis is useful in the definite diagnosis and follow up of Wiskott-Aldrich syndrome patients and in carrier detection, especially of atypical or sporadic patients. Springer-Verlag Berlin Heidelberg, 2000 Key words Wiskott-Aldrich syndrome nationallicence Wiskott-Aldrich syndrome protein nationallicence Mutations nationallicence Carriers nationallicence Bone marrow transplantation nationallicence Sasahara Y. Department of Paediatric Oncology, Institute of Development, Aging and Cancer, Tohoku University, 4-1 Seiryou-machi, Aoba-ku, Sendai, Miyagi, 980-8575, Japan, e-mail: sasahara@idac.tohoku.ac.jp, Tel.: +81-22-717 8493, Fax: +81-22-717 8495, JP aut Kawai S. Department of Paediatric Oncology, Institute of Development, Aging and Cancer, Tohoku University, 4-1 Seiryou-machi, Aoba-ku, Sendai, Miyagi, 980-8575, Japan, e-mail: sasahara@idac.tohoku.ac.jp, Tel.: +81-22-717 8493, Fax: +81-22-717 8495, JP aut Kumaki S. Department of Paediatric Oncology, Institute of Development, Aging and Cancer, Tohoku University, 4-1 Seiryou-machi, Aoba-ku, Sendai, Miyagi, 980-8575, Japan, e-mail: sasahara@idac.tohoku.ac.jp, Tel.: +81-22-717 8493, Fax: +81-22-717 8495, JP aut Ohashi Y. Department of Paediatric Oncology, Institute of Development, Aging and Cancer, Tohoku University, 4-1 Seiryou-machi, Aoba-ku, Sendai, Miyagi, 980-8575, Japan, e-mail: sasahara@idac.tohoku.ac.jp, Tel.: +81-22-717 8493, Fax: +81-22-717 8495, JP aut Minegishi M. Department of Paediatric Oncology, Institute of Development, Aging and Cancer, Tohoku University, 4-1 Seiryou-machi, Aoba-ku, Sendai, Miyagi, 980-8575, Japan, e-mail: sasahara@idac.tohoku.ac.jp, Tel.: +81-22-717 8493, Fax: +81-22-717 8495, JP aut Tsuchiya S. Department of Paediatric Oncology, Institute of Development, Aging and Cancer, Tohoku University, 4-1 Seiryou-machi, Aoba-ku, Sendai, Miyagi, 980-8575, Japan, e-mail: sasahara@idac.tohoku.ac.jp, Tel.: +81-22-717 8493, Fax: +81-22-717 8495, JP aut https://doi.org/10.1007/s004310050005 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s004310050005 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Sasahara Y. Department of Paediatric Oncology, Institute of Development, Aging and Cancer, Tohoku University, 4-1 Seiryou-machi, Aoba-ku, Sendai, Miyagi, 980-8575, Japan, e-mail: sasahara@idac.tohoku.ac.jp, Tel.: +81-22-717 8493, Fax: +81-22-717 8495, JP aut NATIONALLICENCE 700 1- Kawai S. Department of Paediatric Oncology, Institute of Development, Aging and Cancer, Tohoku University, 4-1 Seiryou-machi, Aoba-ku, Sendai, Miyagi, 980-8575, Japan, e-mail: sasahara@idac.tohoku.ac.jp, Tel.: +81-22-717 8493, Fax: +81-22-717 8495, JP aut NATIONALLICENCE 700 1- Kumaki S. Department of Paediatric Oncology, Institute of Development, Aging and Cancer, Tohoku University, 4-1 Seiryou-machi, Aoba-ku, Sendai, Miyagi, 980-8575, Japan, e-mail: sasahara@idac.tohoku.ac.jp, Tel.: +81-22-717 8493, Fax: +81-22-717 8495, JP aut NATIONALLICENCE 700 1- Ohashi Y. Department of Paediatric Oncology, Institute of Development, Aging and Cancer, Tohoku University, 4-1 Seiryou-machi, Aoba-ku, Sendai, Miyagi, 980-8575, Japan, e-mail: sasahara@idac.tohoku.ac.jp, Tel.: +81-22-717 8493, Fax: +81-22-717 8495, JP aut NATIONALLICENCE 700 1- Minegishi M. Department of Paediatric Oncology, Institute of Development, Aging and Cancer, Tohoku University, 4-1 Seiryou-machi, Aoba-ku, Sendai, Miyagi, 980-8575, Japan, e-mail: sasahara@idac.tohoku.ac.jp, Tel.: +81-22-717 8493, Fax: +81-22-717 8495, JP aut NATIONALLICENCE 700 1- Tsuchiya S. Department of Paediatric Oncology, Institute of Development, Aging and Cancer, Tohoku University, 4-1 Seiryou-machi, Aoba-ku, Sendai, Miyagi, 980-8575, Japan, e-mail: sasahara@idac.tohoku.ac.jp, Tel.: +81-22-717 8493, Fax: +81-22-717 8495, JP aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer