Clinical Features of a Japanese Girl With Radio-Tartaglia Syndrome due to a SPEN Truncating Variant
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View abstract on PubMed
Summary
This summary is machine-generated.Radio-Tartaglia syndrome (RATARS) is a rare genetic disorder. This study identifies a new case in a Japanese girl with SPEN gene variant, highlighting distinct facial features and developmental delays.
Area Of Science
- Genetics
- Rare Diseases
- Neurodevelopmental Disorders
Background
- Radio-Tartaglia syndrome (RATARS) is an ultra-rare genetic disorder.
- It is caused by heterozygous truncating variants in the SPEN gene on chromosome 1p36.
- Characterized by developmental delay, hypotonia, and intellectual disability.
Observation
- A Japanese girl presented with psychomotor delay, hypotonia, and facial features reminiscent of Down syndrome (DS).
- Initial suspicion of DS was ruled out by cytogenetic testing and microarray analysis.
- The patient exhibited no respiratory or feeding difficulties at birth.
Findings
- Trio-based whole exome sequencing identified a de novo heterozygous pathogenic SPEN variant (NM_015001.3:c.6223_6227del, p.(Ser2075GlufsTer46)).
- This confirmed the diagnosis of Radio-Tartaglia syndrome.
- Facial similarity to Down syndrome was a notable characteristic in this RATARS case.
Implications
- This case expands the phenotypic spectrum of Radio-Tartaglia syndrome.
- Highlights the importance of genetic testing for rare neurodevelopmental disorders.
- Further research is needed to determine if DS-like facial features are common in RATARS.
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