Supplementary File 1: Case Report on Episignature Diagnosis of a DYRK1A Variant

A 2026 case report by Inas Al-Younis details the use of genome-wide DNA methylation analysis to diagnose a neurodevelopmental disorder. The 30.6 KB document describes a 7-year-old female patient with global developmental delay, autism, and epilepsy, where episignature analysis guided the reclassification of a DYRK1A variant. The report is shared under a CC-BY-4.0 license on figshare.

Use Cases

• Study the application of episignature analysis as a functional tool for variant reclassification based on the described clinical workflow.
• Analyze a case example of integrating DNA methylation profiling with standard genomic testing for neurodevelopmental disorders.
• Review the clinical presentation and diagnostic odyssey for a patient with a DYRK1A-related disorder as detailed in the report.

Strengths

• Includes specific genomic coordinates (GRCh37/hg19 and GRCh38/hg38) for the identified DYRK1A deletion.
• Provides a detailed clinical phenotype description including global developmental delay, autism spectrum disorder, and epilepsy.
• Document is shared under a permissive CC-BY-4.0 license for reuse.

Limitations

• The dataset is a single 30.6 KB case report document, representing a very limited scope.
• Row count and column-level documentation are absent; the document's content must be manually reviewed.
• Data may reflect the specific biases inherent to a single case study from an unspecified clinical setting.

Provenance

Source

figshare, authored by Inas Al-Younis.

Collection Method

Likely compiled from clinical and laboratory findings for a single patient case.

Freshness

Last updated 2026-05-21 22:01:17.