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@article{1673241, author = {Trizuljak, Jakub and Petruchová, Terezie and Blaháková, Ivona and Vrzalová, Zuzana and Horinova, Vera and Doubková, Martina and Michalka, Jozef and Mayer, Jiří and Pospíšilová, Šárka and Doubek, Michael}, article_location = {BASEL}, article_number = {2}, doi = {http://dx.doi.org/10.1159/000507006}, keywords = {Autosomal recessive variant; BLM; Bloom syndrome; Consanguinity; Lymphoma}, language = {eng}, issn = {1661-8769}, journal = {Molecular Syndromology}, title = {Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin}, url = {https://www.karger.com/Article/Abstract/507006}, volume = {11}, year = {2020} }
TY - JOUR ID - 1673241 AU - Trizuljak, Jakub - Petruchová, Terezie - Blaháková, Ivona - Vrzalová, Zuzana - Horinova, Vera - Doubková, Martina - Michalka, Jozef - Mayer, Jiří - Pospíšilová, Šárka - Doubek, Michael PY - 2020 TI - Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin JF - Molecular Syndromology VL - 11 IS - 2 SP - 73-82 EP - 73-82 PB - Karger SN - 16618769 KW - Autosomal recessive variant KW - BLM KW - Bloom syndrome KW - Consanguinity KW - Lymphoma UR - https://www.karger.com/Article/Abstract/507006 L2 - https://www.karger.com/Article/Abstract/507006 N2 - Bloom syndrome is an autosomal recessive disorder characterized by prenatal and postnatal growth deficiency, photosensitive skin changes, immune deficiency, insulin resistance, and a greatly increased risk of early-onset cancer and development of multiple malignancies. Loss-of-function variants of theBLMgene, which codes for a RecQ helicase, cause Bloom syndrome. We report a consanguineous family, with 2 siblings showing clinical signs of suspected chromosome breakage disorder. One of them developed recurrent malignant lymphoma during lifetime. We performed next-generation sequencing analysis, focusing on cancer predisposition syndromes. We identified a homozygous pathogenic nonsense variant c.1642C>T (p.Gln548*) in theBLMgene in the proband, associated with Bloom syndrome. Sanger sequencing validated the presence of a homozygous pathogenic variant in the proband and also in the brother with short stature. In this article, we will focus on the clinical presentation of the syndrome in this particular family as well as the characteristics of malignancies found in the proband. ER -
TRIZULJAK, Jakub, Terezie PETRUCHOVÁ, Ivona BLAHÁKOVÁ, Zuzana VRZALOVÁ, Vera HORINOVA, Martina DOUBKOVÁ, Jozef MICHALKA, Jiří MAYER, Šárka POSPÍŠILOVÁ a Michael DOUBEK. Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin. \textit{Molecular Syndromology}. BASEL: Karger, 2020, roč.~11, č.~2, s.~73-82. ISSN~1661-8769. Dostupné z: https://dx.doi.org/10.1159/000507006.
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