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A 15q14 microdeletion involving MEIS2 identified in a patient with autism spectrum disorder

Keiko Shimojima1, Yumiko Ondo1, Nobuhiko Okamoto2

  • 1Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

Human Genome Variation
|July 25, 2017
PubMed

Insights

This study details a patient with a 15q14 microdeletion affecting the MEIS2 gene. Haploinsufficiency of MEIS2 was linked to mild developmental delay and autism spectrum disorder in this case.

Area of Science:

  • Genetics
  • Developmental Biology
  • Pediatrics

Background:

  • Microdeletion syndromes can lead to complex phenotypes.
  • MEIS2 gene haploinsufficiency is implicated in developmental disorders.

Purpose of the Study:

  • To report a case of 15q14 microdeletion including MEIS2.
  • To investigate the role of MEIS2 in the observed phenotype.

Main Methods:

  • Clinical case description.
  • Genetic analysis (15q14 microdeletion).

Main Results:

  • A 9-year-old male patient presented with a 15q14 microdeletion encompassing MEIS2.
  • Phenotypic features included ventricular septal defect, submucosal cleft, mild developmental disability, and autism spectrum disorder.
  • These features were attributed to MEIS2 haploinsufficiency.

Conclusions:

  • MEIS2 haploinsufficiency is associated with specific developmental and congenital anomalies.
  • The findings suggest MEIS2 plays a significant role in neurodevelopment and cardiac development.
  • This case highlights the importance of MEIS2 in the heterozygous state for normal development.

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