Genes, Vol. 14, Pages 1983: Double Heterozygous Pathogenic Variants in the LOX and PKD1 Genes in a 5-Year-Old Patient with Thoracic Aortic Aneurysm and Polycystic Kidney Disease

We present a case report of a 5.5-year-old girl with an aortic aneurysm and concomitant polycystic kidney disease. Whole exome sequencing was performed, followed by family screening by amplicon deep sequencing and diagnostic imaging studies. In the proband, two pathogenic variants were identified: p.Tyr257Ter in the LOX gene inherited from her mother, and p.Thr2977Ile in the PKD1 gene inherited from her father. All adult carriers of either of these variants showed symptoms of aortic disease. We conclude that the coexistence of two independent genetic variants in the proband may be the reason for an early onset of disease.

Source: Genes - October 24, 2023 Category: Genetics & Stem Cells Authors: Joanna Kinga Poni ńska Weronika Pelczar-P łachta Agnieszka Pollak Katarzyna Jo ńczyk-Potoczna Gra żyna Truszkowska Ilona Micha łowska Emilia Szafran Zofia T. Bili ńska Waldemar Bobkowski Rafa ł Płoski Tags: Case Report Source Type: research