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@article{2285057,
author = {Wayhelová, Markéta and Vallová, Vladimíra and Brož, Petr and Mikulášová, Aneta and Macháčková, Dominika and Filková, Hana Dynková and Smetana, Jan and Takácsová, Alena and Gaillyová, Renata and Kuglík, Petr},
article_number = {5},
doi = {http://dx.doi.org/10.3892/mmr.2023.12997},
keywords = {exome sequencing; BLM gene; Bloom syndrome; cancer-predisposing syndrome; copy-number neutral loss of heterozygosity},
language = {eng},
issn = {1791-2997},
journal = {Molecular Medicine Reports},
title = {A unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio-based exome sequencing: A case report},
url = {https://doi.org/10.3892/mmr.2023.12997},
volume = {27},
year = {2023}
}
TY - JOUR
ID - 2285057
AU - Wayhelová, Markéta - Vallová, Vladimíra - Brož, Petr - Mikulášová, Aneta - Macháčková, Dominika - Filková, Hana Dynková - Smetana, Jan - Takácsová, Alena - Gaillyová, Renata - Kuglík, Petr
PY - 2023
TI - A unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio-based exome sequencing: A case report
JF - Molecular Medicine Reports
VL - 27
IS - 5
SP - 1-9
EP - 1-9
PB - Spandidos Publications
SN - 17912997
KW - exome sequencing
KW - BLM gene
KW - Bloom syndrome
KW - cancer-predisposing syndrome
KW - copy-number neutral loss of heterozygosity
UR - https://doi.org/10.3892/mmr.2023.12997
N2 - Pathogenic variants affecting the BLM gene are responsible for the manifestation of extremely rare cancer‑predisposing Bloom syndrome. The present study reports on a case of an infant with a congenital hypotrophy, short stature and abnormal facial appearance. Initially she was examined using a routine molecular diagnostic algorithm, including the cytogenetic analysis of her karyotype, microarray analysis and methylation‑specific MLPA, however, she remained undiagnosed on a molecular level. Therefore, she and her parents were enrolled in the project of trio‑based exome sequencing (ES) using Human Core Exome kit. She was revealed as a carrier of an extremely rare combination of causative sequence variants altering the BLM gene (NM_000057.4), c.1642C>T and c.2207_2212delinsTAGATTC in the compound heterozygosity, resulting in a diagnosis of Bloom syndrome. Simultaneously, a mosaic loss of heterozygosity of chromosome 11p was detected and then confirmed as a borderline imprinting center 1 hypermethylation on chromosome 11p15. The diagnosis of Bloom syndrome and mosaic copy‑number neutral loss of heterozygosity of chromosome 11p increases a lifetime risk to develop any types of malignancy. This case demonstrates the trio‑based ES as a complex approach for the molecular diagnostics of rare pediatric diseases.
ER -
WAYHELOVÁ, Markéta, Vladimíra VALLOVÁ, Petr BROŽ, Aneta MIKULÁŠOVÁ, Dominika MACHÁČKOVÁ, Hana Dynková FILKOVÁ, Jan SMETANA, Alena TAKÁCSOVÁ, Renata GAILLYOVÁ and Petr KUGLÍK. A unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio-based exome sequencing: A case report. \textit{Molecular Medicine Reports}. Spandidos Publications, 2023, vol.~27, No~5, p.~1-9. ISSN~1791-2997. Available from: https://dx.doi.org/10.3892/mmr.2023.12997.
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