COG5-CDG Case Report: Whole Genome Sequencing Diagnosis in Siblings

A case report details two siblings diagnosed with COG5-related congenital disorder of glycosylation via whole genome sequencing. The 118.2 KB PDF, authored by Katherine Granger and licensed CC-BY-4.0, expands the known phenotypic spectrum of this rare metabolic disorder. It highlights the combination of optic atrophy, macular atrophy, and developmental delay not previously reported together.

Use Cases

• Training diagnostic algorithms for rare diseases based on detailed phenotypic descriptions.
• Studying genotype-phenotype correlations in congenital disorders of glycosylation based on reported compound heterozygous variants.
• Benchmarking the utility of whole genome sequencing versus panel-based exome testing for complex neuro-ophthalmologic presentations.

Strengths

• The report includes 5 years of follow-up data for the two cases.
• It provides specific genetic variant information, including a deep intronic variant and a pathogenic frameshift variant.

Limitations

• The dataset is a single PDF case report with a file size of 118.2 KB, representing a very limited scope.
• Row count and column-level documentation are absent; data structure must be inferred from the narrative text.
• The data reflects a specific case study and may not be generalizable.

Provenance

Source

figshare

Collection Method

Clinical case report.

Freshness

Last updated 2026-06-01 05:25:17.