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MEIS2 involvement in cardiac development, cleft palate, and intellectual disability
Jacoba J Louw1, Anniek Corveleyn, Yaojuan Jia
1Department of Congenital and Pediatric Cardiology, University Hospitals Leuven, Belgium; Center of Human Genetics, University Hospitals Leuven, Katholieke Universiteit Leuven, Belgium.
American Journal of Medical Genetics. Part A
|February 26, 2015
Summary
A novel MEIS2 gene mutation caused severe congenital anomalies in a patient, including heart defects and developmental delays. This finding highlights MEIS2
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- The MEIS2 gene is implicated in developmental processes.
- Mutations in MEIS2 have been linked to cleft palate, cardiac septal defects, and intellectual disability.
Purpose of the Study:
- To report a novel MEIS2 mutation.
- To describe a severe phenotype associated with this mutation.
- To investigate the role of MEIS2 in human development.
Main Methods:
- Whole exome sequencing was performed.
- A detailed clinical evaluation of the patient was conducted.
Main Results:
- A de novo three-base pair deletion (c.998_1000del:p.Arg333del) in the MEIS2 homeodomain was identified.
- The patient presented with a severe phenotype including multiple congenital malformations, severe feeding problems, facial dysmorphism, global developmental delay, and autism spectrum disorder.
- The identified mutation likely acts through dominant-negative mechanisms.
Conclusions:
- This case expands the spectrum of MEIS2-associated disorders.
- The findings underscore the critical role of MEIS2 in normal development.
- De novo intragenic MEIS2 mutations can lead to severe developmental phenotypes.
