Genetic characteristics of eighty-seven patients with the
Wiskott-Aldrich syndrome

J 2011

Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome

GULASZY, V., Tomáš FREIBERGER, A. SHCHERBINA, M. PAC, L. CHERNYSHOVA et. al.

Basic information

Original name

Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome

Authors

GULASZY, V. (348 Hungary), Tomáš FREIBERGER (203 Czech Republic, guarantor, belonging to the institution), A. SHCHERBINA (643 Russian Federation), M. PAC (616 Poland), L. CHERNYSHOVA (804 Ukraine), T. AVCIN (705 Slovenia), Ivan KONDRATENKO (643 Russian Federation), L. KOSTYUCHENKO (804 Ukraine), T. PROKOFJEVA (428 Latvia), S. PASIC (688 Serbia), E. BERNATOWSKA (616 Poland), N. KUTUKCULER (792 Turkey), Jelena RASCON (440 Lithuania), N. IAGARU (642 Romania), C. MAZZA (380 Italy), B. TOTH (348 Hungary), M. ERDOS (348 Hungary), M. VAN DER BURG (528 Netherlands) and L. MARODI (348 Hungary)

Edition

Molecular Immunology, Pergamon-Elsevier Science Ltd. 2011, 0161-5890

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

Genetics and molecular biology

Country of publisher

United Kingdom of Great Britain and Northern Ireland

Confidentiality degree

není předmětem státního či obchodního tajemství

Impact factor

Impact factor: 2.897

RIV identification code

RIV/00216224:14110/11:00052204

Organization unit

Faculty of Medicine

DOI

http://dx.doi.org/10.1016/j.molimm.2010.11.013

UT WoS

000287894600008

Keywords in English

Wiskott-Aldrich syndrome; WASP mutation

Abstract

V originále

We present here the results of genetic analysis of patients with WAS from eleven Eastern and Central European (ECE) countries and Turkey. Clinical and haematological information of 87 affected males and 48 carrier females from 77 WAS families were collected. The WASP gene was sequenced from genomic DNA of patients with WAS, as well as their familiy members to identify carriers. In this large cohort, we identified 62 unique mutations including 17 novel sequence variants. The mutations were scattered throughout the WASP gene and included single base pair changes (17 missense and 11 nonsense mutations), 7 small insertions, 18 deletions, and 9 splice site defects. Genetic counselling and prenatal diagnosis were applied in four affected families. This study was part of the J Project aimed at identifying genetics basis of primary immunodeficiency disease in ECE countries. This report provides the first comprehensive overview of the molecular genetic and demographic features of WAS in ECE.

Citovat

GULASZY, V., Tomáš FREIBERGER, A. SHCHERBINA, M. PAC, L. CHERNYSHOVA, T. AVCIN, Ivan KONDRATENKO, L. KOSTYUCHENKO, T. PROKOFJEVA, S. PASIC, E. BERNATOWSKA, N. KUTUKCULER, Jelena RASCON, N. IAGARU, C. MAZZA, B. TOTH, M. ERDOS, M. VAN DER BURG and L. MARODI. Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome. Molecular Immunology. Pergamon-Elsevier Science Ltd., 2011, vol. 48, No 5, p. 788-792. ISSN 0161-5890. Available from: https://dx.doi.org/10.1016/j.molimm.2010.11.013.

@article{935996,
   author = {Gulaszy, V. and Freiberger, Tomáš and Shcherbina, A. and Pac, M. and Chernyshova, L. and Avcin, T. and Kondratenko, Ivan and Kostyuchenko, L. and Prokofjeva, T. and Pasic, S. and Bernatowska, E. and Kutukculer, N. and Rascon, Jelena and Iagaru, N. and Mazza, C. and Toth, B. and Erdos, M. and van der Burg, M. and Marodi, L.},
   article_number = {5},
   doi = {http://dx.doi.org/10.1016/j.molimm.2010.11.013},
   keywords = {Wiskott-Aldrich syndrome; WASP mutation},
   language = {eng},
   issn = {0161-5890},
   journal = {Molecular Immunology},
   title = {Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome},
   volume = {48},
   year = {2011}
}

TY  - JOUR
ID  - 935996
AU  - Gulaszy, V. - Freiberger, Tomáš - Shcherbina, A. - Pac, M. - Chernyshova, L. - Avcin, T. - Kondratenko, Ivan - Kostyuchenko, L. - Prokofjeva, T. - Pasic, S. - Bernatowska, E. - Kutukculer, N. - Rascon, Jelena - Iagaru, N. - Mazza, C. - Toth, B. - Erdos, M. - van der Burg, M. - Marodi, L.
PY  - 2011
TI  - Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome
JF  - Molecular Immunology
VL  - 48
IS  - 5
SP  - 788-792
EP  - 788-792
PB  - Pergamon-Elsevier Science Ltd.
SN  - 01615890
KW  - Wiskott-Aldrich syndrome
KW  - WASP mutation
N2  - We present here the results of genetic analysis of patients with WAS from eleven Eastern and Central European (ECE) countries and Turkey. Clinical and haematological information of 87 affected males and 48 carrier females from 77 WAS families were collected. The WASP gene was sequenced from genomic DNA of patients with WAS, as well as their familiy members to identify carriers. In this large cohort, we identified 62 unique mutations including 17 novel sequence variants. The mutations were scattered throughout the WASP gene and included single base pair changes (17 missense and 11 nonsense mutations), 7 small insertions, 18 deletions, and 9 splice site defects. Genetic counselling and prenatal diagnosis were applied in four affected families. This study was part of the J Project aimed at identifying genetics basis of primary immunodeficiency disease in ECE countries. This report provides the first comprehensive overview of the molecular genetic and demographic features of WAS in ECE.
ER  -

GULASZY, V., Tomáš FREIBERGER, A. SHCHERBINA, M. PAC, L. CHERNYSHOVA, T. AVCIN, Ivan KONDRATENKO, L. KOSTYUCHENKO, T. PROKOFJEVA, S. PASIC, E. BERNATOWSKA, N. KUTUKCULER, Jelena RASCON, N. IAGARU, C. MAZZA, B. TOTH, M. ERDOS, M. VAN DER BURG and L. MARODI. Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome. \textit{Molecular Immunology}. Pergamon-Elsevier Science Ltd., 2011, vol.~48, No~5, p.~788-792. ISSN~0161-5890. Available from: https://dx.doi.org/10.1016/j.molimm.2010.11.013.

Detailed Information on Publication Record