Case report: 7p22.3 deletion and 8q24.3 duplication in a patient with epilepsy and psychomotor delay-Does both possibly act to modulate a candidate gene region for the patient's phenotype?

Autor:	Touhami R; Laboratory of human genome and multifactorial diseases, Faculty of Pharmacy, University of Monastir, Monastir, Tunisia.; Department of Cellular and Molecular Biology, Superior Institute of Biotechnology, University of Monastir, Monastir, Tunisia.; Laboratory of Cytogenetics, Hôpital Mère-enfant, CHU Lyon, Lyon, France., Foddha H; Laboratory of human genome and multifactorial diseases, Faculty of Pharmacy, University of Monastir, Monastir, Tunisia., Alix E; Laboratory of Cytogenetics, Hôpital Mère-enfant, CHU Lyon, Lyon, France., Jalloul A; Laboratory of Cytogenetics, Hôpital Mère-enfant, CHU Lyon, Lyon, France., Mougou-Zerelli S; Laboratory of Cytogenetics, molecular genetics, and human reproduction biology, CHU Farhat Hached, Sousse, Tunisia., Saad A; Laboratory of Cytogenetics, molecular genetics, and human reproduction biology, CHU Farhat Hached, Sousse, Tunisia., Sanlaville D; Laboratory of Cytogenetics, Hôpital Mère-enfant, CHU Lyon, Lyon, France., Haj Khelil A; Laboratory of human genome and multifactorial diseases, Faculty of Pharmacy, University of Monastir, Monastir, Tunisia.; Department of Cellular and Molecular Biology, Superior Institute of Biotechnology, University of Monastir, Monastir, Tunisia.
Jazyk:	angličtina
Zdroj:	Frontiers in genetics [Front Genet] 2023 Jan 09; Vol. 13, pp. 1061539. Date of Electronic Publication: 2023 Jan 09 (Print Publication: 2022).
DOI:	10.3389/fgene.2022.1061539
Abstrakt:	Background: Psychomotor delay, epilepsy and dysmorphic features are clinical signs which are described in multiple syndromes due to chromosomal imbalances or mutations involving key genes implicated in the stages of Early Embryonic Development. In this context, we report a 10 years old Tunisian patient with these three signs. Our objective is to determine the cause of developmental, behavioral and facial abnormalities in this patient. Methods: We used banding cytogenetics (karyotype) and Array Comparative Genomic Hybridization (Array CGH) to this purpose. Results: The karyotype was in favor of a derivative of chromosome 7 in the patient and Array CGH analysis revealed a loss of genetic material in 7p22.3-p22.1 (4,56 Mb) with a gain at 8q24.23-q24 (9.20 Mb) resulting from maternal 7/8 reciprocal translocation. An in silico analysis of the unbalanced region was carried out and showed that the 7p22.3-p22.1 deletion contains eight genes. Among them, BRAT1 gene, previously described in several neurodevelopmental diseases, may be a candidate gene which absence could be correlated to the patient's phenotype. However, the 8q24.23-q24 duplication could be involved in the phenotype of this patient. Conclusion: In this study, we report for the first time a 7p deletion/8q duplication in a patient with psychomoteur delay, epilepsy and facial dysmorphism. Our study showed that Array CGH still useful for delivering a conclusive genetic diagnosis for patients having neurodevelopmental abnormalities in the era of next-generation sequencing. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2023 Touhami, Foddha, Alix, Jalloul, Mougou-Zerelli, Saad, Sanlaville and Haj Khelil.)
Databáze:	MEDLINE
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