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Children's Hospital (Boston, Massachusetts)

Novel Genetic Variant Expands Clinical Phenotype in Older Patient with Intellectual Disabilities

Strategic Insights

— 1 min read

A groundbreaking case study published by researchers at Boston Children's Hospital sheds new light on the long-term prognosis of individuals with a specific genetic variant. A 71-year-old female patient with a history of intellectual disabilities, schizoaffective disorder, and psychosis was found to have a novel, heterozygous, predicted loss-of-function variant in the gene, which has been associated with Coffin-Siris Syndrome 12 (CSS-12). This case report not only expands the clinical phenotype associated with variants but also highlights the importance of genetic testing for accurate diagnosis and treatment.

Key Takeaways:

  • The patient's exome sequencing revealed a novel variant in the gene, which is associated with Coffin-Siris Syndrome 12 (CSS-12).
  • The patient's clinical phenotype expanded the known association between variants and intellectual disabilities, schizoaffective disorder, and psychosis.
  • This case study is the oldest patient to date with a pathogenic variant in the gene, with a reported age of 71 years.
  • Heterozygous rare variants in the gene have been associated with CSS-12.
  • The research suggests that genetic testing may be crucial for accurate diagnosis and treatment of individuals with similar presentation.
  • The study expands the clinical phenotype associated with variants and sheds light on the long-term prognosis for individuals with this genetic condition.
  • The case report highlights the importance of comprehensive genetic evaluation for accurate diagnosis and prognosis.
  • Additional research is needed to further understand the long-term implications of this genetic variant.

Statistics:

  • The patient was 71 years old at the time of diagnosis.
  • The variant was heterozygous and predicted to be loss-of-function.
  • The gene is associated with Coffin-Siris Syndrome 12 (CSS-12).
  • CSS-12 is a rare genetic disorder characterized by intellectual disabilities, physical abnormalities, and behavioral/psychiatric issues.
  • The patient's clinical presentation expanded the known associations between variants and intellectual disabilities, schizoaffective disorder, and psychosis.
  • The study's findings emphasize the importance of genetic testing for individuals with similar presentation.

Sources:

  • A Novel Variant in the BICRA Gene, Expanding the Phenotype: A Case Report. Case Reports in Genetics, 2025;2025(1):4041217.
  • Wendy K. Chung, Dept. of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, United States (contact information).
  • Catherine Kentros, author, Boston Children's Hospital, Boston, Massachusetts, United States.
  • Mythily Ganapathi, author, Boston Children's Hospital, Boston, Massachusetts, United States.

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