First Patient Diagnosed as Feingold Syndrome Type 2 with Alport Syndrome and Review of the Current Literature

Conclusion/Discussion: In the array-CGH analysis, a 15.7-Mb deletion, arr[hg19] 13q22q31.3(78,241,132_93,967,288) ×1, was detected, and this alteration was evaluated to be pathogenic. The deletion of this region covering theMIR17HG gene is a potential cause of FGLDS2. Also, at her clinical exome sequencing study, a heterozygous c.2023G#x3e;A p.(Gly675Ser) variation was detected in theCOL4A5 gene (NM_000495.4) that was likely pathogenic in up-to-date databases. As a result, we report on a patient who has FGLDS2 and Alport syndrome. This is the first report of a Turkish-origin FGLDS2 patient. Reporting new cases expands the range of phenotypes, plays a crucial role in understanding the FGLDS2 pathogenesis, and is important in terms of screening at-risk family members for giving appropriate genetic counseling and preimplantation genetic diagnosis opportunities.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research