Case Report: KMT2D Mutation in a Shone Syndrome Phenotype

A 2026 case report by Peiwen Cheng details a 4-year-old girl with a Shone syndrome phenotype and a heterozygous KMT2D variant. The report includes trio whole-exome sequencing results, echocardiography, and CT angiography findings. It is a single-family study published on figshare under a CC-BY-4.0 license.

Use Cases

• Study the association between KMT2D variants and left-sided obstructive heart lesions based on the described case.
• Analyze variable expressivity and maternal inheritance patterns of a specific KMT2D variant (c.15565G>A).
• Review detailed cardiac imaging findings (supramitral ring, aortic arch interruption) associated with a rare congenital heart disease phenotype.

Strengths

• Includes detailed clinical and genetic data from a trio whole-exome sequencing analysis.
• Provides specific imaging and intraoperative findings for a rare congenital heart disease case.
• Released under a permissive CC-BY-4.0 license for reuse.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• The dataset is a single case report (259.4 KB), representing a very limited scope.

Provenance

Source

figshare, author Peiwen Cheng.

Collection Method

Clinical case report involving patient examination, trio whole-exome sequencing, and imaging.

Freshness

Last updated 2026-04-23 05:27:59; freshness should be verified.