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Genotype and Cardiac Rhabdomyoma Phenotype Analyses in Tuberous Sclerosis Complex Diseases.

Xiang Chen1, Ruen Yao2, Wangtao Sheng1

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Cardiac rhabdomyomas (CRs), a phenotype of tuberous sclerosis complex (TSC), show specific exon enrichment in TSC1 and TSC2 genes. This finding is crucial for understanding genotype-phenotype relationships and genetic counseling in TSC patients.

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Area of Science:

  • Genetics
  • Medical Genetics
  • Molecular Biology

Background:

  • Cardiac rhabdomyomas (CRs) are a common manifestation of tuberous sclerosis complex (TSC).
  • The genetic basis and genotype-phenotype correlations for CR in TSC remain incompletely understood.
  • TSC1 and TSC2 are the primary genes associated with TSC.

Purpose of the Study:

  • To investigate the relationship between specific gene variants in TSC1 and TSC2 and the CR phenotype.
  • To identify potential exon-level enrichment patterns associated with CR.
  • To provide insights for genetic counseling in TSC.

Main Methods:

  • Curated pathogenic and likely pathogenic variants in TSC1 and TSC2 from major databases.
  • Statistical analyses, including enrichment evaluation and Benjamini-Hochberg FDR correction.
  • Poisson model analysis to account for exon size variations.

Main Results:

  • Significant enrichment of CR-related variants was observed in specific exons of TSC1 (Exon 15 and Exon 18) and TSC2 (Exon 37, Exon 38, and Exon 41).
  • Exon-level analysis revealed statistically significant associations after accounting for multiple testing.
  • While 20.8% of TSC1 variants and 4.3% of TSC2 variants were linked to CR, specific exons showed disproportionately higher associations.

Conclusions:

  • CR phenotypes exhibit partial enrichment in particular exons of TSC1 and TSC2.
  • Exon-level interpretation is vital for accurate genetic counseling in TSC.
  • These findings contribute to a better understanding of the molecular mechanisms underlying CR in TSC.