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Lookup NU author(s): Dr Aneta Mikulasova
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
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.
Author(s): Wayhelova M, Vallova V, Broz P, Mikulasova A, Machackova D, Filkova HD, Smetana J, Takacsova A, Gaillyova R, Kuglik P
Publication type: Article
Publication status: Published
Journal: Molecular Medicine Reports
Year: 2023
Volume: 27
Issue: 5
Print publication date: 01/05/2023
Online publication date: 12/04/2023
Acceptance date: 09/02/2023
Date deposited: 04/05/2023
ISSN (print): 1791-2997
ISSN (electronic): 1791-3004
Publisher: Spandidos Publications
URL: https://doi.org/10.3892/mmr.2023.12997
DOI: 10.3892/mmr.2023.12997
PubMed id: 37052241
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