AI Article Synopsis
- The MEIS2 gene is linked to syndromic intellectual disability, specifically featuring cleft palate and cardiac defects.
- A 10-year-old male patient exhibited cardiac defects, intellectual disability, unique facial features, and gastroesophageal reflux, which led to genetic testing.
- Whole exome sequencing identified a new mutation in the MEIS2 gene, contributing to the understanding of its role in facial characteristics and various developmental issues.
Article Abstract
Myeloid ecotropic insertion site 2 (MEIS2) gene, encoding a homeodomain-containing transcription factor, has been recently related to syndromic intellectual disability with cleft palate and cardiac defects. Here, we present a male patient, aged 10, with cardiac defects, intellectual disability, facial dysmorphisms and gastroesophageal reflux. Whole exome sequencing revealed a novel de novo nonsense mutation in the MEIS2 gene. This patient represents another reported case with a de novo MEIS2 point mutation and helps to characterize a distinct facial phenotype consisting in low anterior hairline, thin eyebrows, anteverted nares, hypoplastic alae nasi, and M-shape upper lip. Furthermore, these data confirm the role of this gene in cardiac, nervous system development and gastrointestinal function.
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| http://dx.doi.org/10.1016/j.ejmg.2019.01.017 | DOI Listing |
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