Case Report: KMT2D Mutation in a Shone Syndrome Patient

A single-family case report describes a 4-year-old girl with Shone syndrome and a heterozygous KMT2D variant. The dataset, authored by Peiwen Cheng and last updated in April 2026, includes clinical and genetic findings from trio whole-exome sequencing, echocardiography, and CT angiography. It is a 10.3 KB Excel file shared under a CC-BY-4.0 license on figshare.

Use Cases

• Study genotype-phenotype correlations in rare congenital heart defects based on the described KMT2D variant and clinical features.
• Investigate variable expressivity and incomplete penetrance of genetic mutations based on the inheritance pattern observed in the proband's family.
• Benchmark genetic findings from trio whole-exome sequencing against imaging and intraoperative data for a single patient case.

Strengths

• Includes multi-modal clinical data: genetic sequencing, echocardiography, and CT angiography for a single case.
• Provides detailed phenotypic description of a rare Shone syndrome presentation.
• Data is openly shared under a permissive CC-BY-4.0 license.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• Describes findings from a single family, limiting generalizability as noted in the report's conclusions.

Provenance

Source

figshare, author Peiwen Cheng.

Collection Method

Clinical case report involving trio whole-exome sequencing, Sanger sequencing confirmation, and cardiac imaging.

Freshness

Last updated 2026-04-23 05:28:00; freshness should be verified.