Diagnosis of Bloom Syndrome in a Patient with Short Stature,
Recurrence of Malignant Lymphoma, and Consanguineous Origin

J 2020

Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin

TRIZULJAK, Jakub, Terezie PETRUCHOVÁ, Ivona BLAHÁKOVÁ, Zuzana VRZALOVÁ, Vera HORINOVA et. al.

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

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

10603 Genetics and heredity

Country of publisher

Switzerland

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

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

Abstract

V originále

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 MU

Name: Nové přístupy ve výzkumu, diagnostice a terapii hematologických malignit VII (Acronym: VýDiTeHeMa VII)

Investor: Masaryk University, Category A

NU20-08-00137, research and development project

Name: 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 project

Name: Vyhledávání mutací predisponujících k familiárním hematologickým a onkologickým onemocněním

90132, large research infrastructures

Name: NCMG II

Citovat

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, 2020, vol. 11, No 2, p. 73-82. ISSN 1661-8769. Available from: https://dx.doi.org/10.1159/000507006.

@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 and 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, vol.~11, No~2, p.~73-82. ISSN~1661-8769. Available from: https://dx.doi.org/10.1159/000507006.

Detailed Information on Publication Record