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A microduplication on chromosome 17p13.1p13.3 including the PAFAH1B1 (LIS1) gene

Kristiina Avela1, Katja Aktan-Collan, Nina Horelli-Kuitunen

  • 1Vaestoliitto, The Family Federation of Finland, Department of Medical Genetics, Helsinki, Finland. kristiina.avela@vaestoliitto.fi

American Journal of Medical Genetics. Part A
|May 20, 2011
PubMed

Insights

A microduplication on chromosome 17p13.1p13.3, including the PAFAH1B1 gene, caused developmental delays and unique facial features in a patient. This genetic finding offers new insights into LIS1 gene function and associated neurodevelopmental disorders.

Area of Science:

  • Genetics
  • Neurodevelopmental Biology
  • Human Molecular Genetics

Background:

  • Microduplications in the 17p13 region, particularly involving the PAFAH1B1 gene encoding LIS1, are linked to brain development abnormalities.
  • LIS1 overexpression is known to disrupt neuronal migration and reduce brain volume, impacting cognitive and motor functions.

Observation:

  • A patient presented with a microduplication of 17p13.1p13.3, including PAFAH1B1, translocated to chromosome 4.
  • The patient exhibited psychomotor and growth retardation, dysmorphic features, a small ventricular septal defect, and immunoglobulin abnormalities.
  • Cranial MRI revealed only subtle abnormalities, contrasting with the significant clinical phenotype.

Findings:

  • The patient's facial features were notably similar to those observed in individuals with 17p trisomy.
  • This case expands the known spectrum of clinical manifestations associated with 17p13.1p13.3 microduplications.
  • The translocation of the microduplicated segment suggests complex genomic rearrangements can occur.

Implications:

  • This report highlights the critical role of LIS1 dosage in normal neurodevelopment and the diverse clinical outcomes of 17p13.1p13.3 microduplications.
  • Understanding these genetic variations is crucial for accurate diagnosis, genetic counseling, and potential therapeutic strategies for neurodevelopmental disorders.
  • Further research into LIS1 function and the mechanisms underlying these microduplications can improve diagnostic accuracy and patient care.

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