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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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