Jaberi-Elahi Syndrome: A Novel GTPBP2 Variant Case Report from Türkiye

A supplementary medical case report describing a novel homozygous frameshift variant in the GTPBP2 gene associated with Jaberi-Elahi syndrome. The report details the clinical presentation of a 4-month-old female infant from consanguineous parents, including severe microcephaly, developmental delay, hypotonia, and early-onset seizures. The document was authored by figshare admin karger and is licensed under CC-BY-4.0.

Use Cases

• Reviewing clinical presentation details for differential diagnosis of severe congenital microcephaly based on the described symptoms.
• Studying genotype-phenotype correlations in Jaberi-Elahi syndrome based on the novel GTPBP2 variant and associated clinical features.
• Analyzing the molecular spectrum of GTPBP2 variants based on the reported frameshift mutation and its classification.
• Examining neuroimaging findings in rare genetic disorders based on the described periventricular white matter abnormalities.

Strengths

• Provides a detailed clinical description of a patient with severe microcephaly, developmental delay, hypotonia, and seizures.
• Includes specific genetic findings, such as the novel homozygous frameshift variant GTPBP2 (c.1165_1166del; p.(Leu389GlufsTer26)).
• Document is licensed under CC-BY-4.0, permitting broad reuse with attribution.

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 (212.8 KB), representing a very limited sample size.

Provenance

Source

figshare

Collection Method

Likely a clinical case report submitted as supplementary material for a medical publication.

Freshness

Last updated 2026-05-21 09:55:08; freshness should be verified.

Geography

Case report originates from Türkiye.