TRIZULJAK, Jakub, Terezie PETRUCHOVÁ, Ivona BLAHÁKOVÁ, Zuzana VRZALOVÁ, Vera HORINOVA, Martina DOUBKOVÁ, Jozef MICHALKA, Jiří MAYER, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin. Molecular Syndromology. BASEL: Karger, vol. 11, No 2, p. 73-82. ISSN 1661-8769. doi:10.1159/000507006. 2020.
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Basic information
Original name Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin
Authors TRIZULJAK, Jakub (703 Slovakia, guarantor, belonging to the institution), Terezie PETRUCHOVÁ (203 Czech Republic, belonging to the institution), Ivona BLAHÁKOVÁ (203 Czech Republic, belonging to the institution), Zuzana VRZALOVÁ (203 Czech Republic, belonging to the institution), Vera HORINOVA (203 Czech Republic), Martina DOUBKOVÁ (203 Czech Republic), Jozef MICHALKA (703 Slovakia, belonging to the institution), Jiří MAYER (203 Czech Republic, belonging to the institution), Šárka POSPÍŠILOVÁ (203 Czech Republic, belonging to the institution) and Michael DOUBEK (203 Czech Republic, belonging to the institution).
Edition Molecular Syndromology, BASEL, Karger, 2020, 1661-8769.
Other information
Original language English
Type of outcome Article in a journal
Field of Study 10603 Genetics and heredity
Country of publisher Switzerland
Confidentiality degree is not subject to a state or trade secret
WWW URL
Impact factor Impact factor: 1.631
RIV identification code RIV/00216224:14110/20:00116143
Organization unit Faculty of Medicine
Doi http://dx.doi.org/10.1159/000507006
UT WoS 000542588200003
Keywords in English Autosomal recessive variant; BLM; Bloom syndrome; Consanguinity; Lymphoma
Tags 14110212, podil, rivok
Tags International impact, Reviewed
Changed by Changed by: Mgr. Tereza Miškechová, učo 341652. Changed: 31/8/2020 10:47.
Abstract
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.
Links
MUNI/A/1395/2019, interní kód MUName: Nové přístupy ve výzkumu, diagnostice a terapii hematologických malignit VII (Acronym: VýDiTeHeMa VII)
Investor: Masaryk University, Category A
NU20-08-00137, research and development projectName: Vyhledávání a funkční testování variant genů predisponujících k familiárním onemocněním krvetvorby
Investor: Ministry of Health of the CR, Searching and functional testing of gene variants predisposing to familial haematopoietic disorders, Subprogram 1 - standard
NV16-29447A, research and development projectName: Vyhledávání mutací predisponujících k familiárním hematologickým a onkologickým onemocněním
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