Balkan Journal of Medical Genetics

VALUE OF OPTICAL GENOME MAPPING (OGM) FOR DIAGNOSTICS OF RARE DISEASES: A FAMILY CASE REPORT
Kovanda A1,2, Miljanović O3, Lovrečić L1,2, Maver A1,2, Hodžić A1,2, Peterlin B1,2,*
*Corresponding Author: *Corresponding Author: Prof. Borut Peterlin, Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Šlajmerjeva 4, 1000 Ljubljana, Slovenia. borut.peterlin@kclj.si
page: 87

DISCUSSION

The diagnostic journey in case of rare disease is of- ten complex and consist of many steps. In our case, the traditional karyotyping was negative and was followed by microarray. While microarray identified a duplication of 18q12.2 that was initially classified as a variant of un- known significance, after segregation showed it to be of maternal origin, it was reclassified as likely benign, and the patients were referred for exome sequencing. After initial exome sequencing was negative, reinterpretation with additional gene panels was performed in the proband, and following another negative result, was followed up by panel exome sequencing of over 2000 genes in trio setup, which also failed to identify causative variants, and the probands were referred for OGM. OGM showed a t(X;18) (q27.1;q12.2) translocation, that was confirmed to be of maternal origin and had the previously observed duplica- tion as an accompanying event: ogm[GRCh38] t(X;18) (q27.1;q12.2)(140408784~140427850;38878133~3939 6298)mat,dup(18)(18q12.2)(38927193_39426970)mat. Despite extended segregation, we did not identify any additional healthy male carriers of the translocation in the family. Therefore, pending reinterpretation and possible functional assessments that may become possible in the future with additional technologies, the identified famil- ial translocation currently remains a variant of unknown significance.

Number 27 VOL. 27 (2), 2024	Number 27 VOL. 27 (1), 2024
Number 26 Number 26 VOL. 26(2), 2023 All in one	Number 26 VOL. 26(2), 2023
Number 26 VOL. 26, 2023 Supplement	Number 26 VOL. 26(1), 2023
Number 25 VOL. 25(2), 2022	Number 25 VOL. 25 (1), 2022
Number 24 VOL. 24(2), 2021	Number 24 VOL. 24(1), 2021
Number 23 VOL. 23(2), 2020	Number 22 VOL. 22(2), 2019
Number 22 VOL. 22(1), 2019	Number 22 VOL. 22, 2019 Supplement
Number 21 VOL. 21(2), 2018	Number 21 VOL. 21 (1), 2018
Number 21 VOL. 21, 2018 Supplement	Number 20 VOL. 20 (2), 2017
Number 20 VOL. 20 (1), 2017	Number 19 VOL. 19 (2), 2016
Number 19 VOL. 19 (1), 2016	Number 18 VOL. 18 (2), 2015
Number 18 VOL. 18 (1), 2015	Number 17 VOL. 17 (2), 2014
Number 17 VOL. 17 (1), 2014	Number 16 VOL. 16 (2), 2013
Number 16 VOL. 16 (1), 2013	Number 15 VOL. 15 (2), 2012
Number 15 VOL. 15, 2012 Supplement	Number 15 Vol. 15 (1), 2012
Number 14 14 - Vol. 14 (2), 2011	Number 14 The 9th Balkan Congress of Medical Genetics
Number 14 14 - Vol. 14 (1), 2011	Number 13 Vol. 13 (2), 2010
Number 13 Vol.13 (1), 2010	Number 12 Vol.12 (2), 2009
Number 12 Vol.12 (1), 2009	Number 11 Vol.11 (2),2008
Number 11 Vol.11 (1),2008	Number 10 Vol.10 (2), 2007
Number 10 10 (1),2007	Number 9 1&2, 2006
Number 9 3&4, 2006	Number 8 1&2, 2005
Number 8 3&4, 2004	Number 7 1&2, 2004
Number 6 3&4, 2003	Number 6 1&2, 2003
Number 5 3&4, 2002	Number 5 1&2, 2002
Number 4 Vol.3 (4), 2000	Number 4 Vol.2 (4), 1999
Number 4 Vol.1 (4), 1998	Number 4 3&4, 2001
Number 4 1&2, 2001	Number 3 Vol.3 (3), 2000
Number 3 Vol.2 (3), 1999	Number 3 Vol.1 (3), 1998
Number 2 Vol.3(2), 2000	Number 2 Vol.1 (2), 1998
Number 2 Vol.2 (2), 1999	Number 1 Vol.3 (1), 2000
Number 1 Vol.2 (1), 1999	Number 1 Vol.1 (1), 1998

About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact