Three pediatric patients with dual rare genetic diagnoses: genetic and clinical findings
Abstract
In certain clinical scenarios, a single diagnosis may be insufficient or even inadequate to fully explain complex or atypical phenotypes.Herein, we present three pediatric cases diagnosed with dual rare genetic disorders and analyze their medical histories and diagnostic trajectories.A total of nine gene mutations were detected, among which seven were novel, including c.[791T>C];[695G>A] in DNAH1, loss2(EXON:3-5) in SGCB, c.[1A>G] (reported);[1024A>G] (reported) in RARS2, c.[962-1G>T];[592A>T] in KIAA0586, and c.358C>T in IRF2BPL, c.2714C>T in KDM6A.
Fields of Study & Subjects
Genomics and Rare Diseases
Metabolism and Genetic Disorders
Genetics and Neurodevelopmental Disorders
Publication details
- Journal / source
- American Journal of Translational Research
- Volume
- 18
- Issue
- 2
- Pages
- 1221–1227
- Publication date
- 1 January 2026
- Language
- EN