Two pathogenetic intronic variants in SPG4/SPAST and expansion of the clinical presentation.
This study functionally characterizes two rare intronic SPAST (SPG4) variants found in two independent families (Brazilian and Japanese). The authors report that both variants affect splicing and provide segregation and clinical descriptions of affected individuals. They also report co-segregation of symptoms consistent with anorexia nervosa in both families, suggesting a possible expansion of the SPG4-associated clinical spectrum.
Key points
- The paper focuses on two SPAST intronic variants with conflicting pathogenicity classification: c.1245+5G>A and c.1493+2_1493+5del.
- Both variants are described as absent or very low frequency in the GnomAD database.
- The authors report functional data indicating that the variants impact splicing.
- Segregation analysis and clinical assessments were used to describe affected individuals in each family.
- In both families, the variants reportedly co-segregated with symptoms consistent with anorexia nervosa.
- The findings are presented as expanding the clinical spectrum of SPG4-associated hereditary spastic paraplegia.
Referenced studies & papers
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AI-generated summaries may be incomplete or incorrect. This content is for informational purposes only and is not medical advice.
AI-generated summaries may be incomplete or incorrect. This content is for informational purposes only and is not medical advice.
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