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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|Titolo:||MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype|
MARI, FRANCESCA (Corresponding)
|Citazione:||Giliberti, A., Curro, A., Papa, F.T., Frullanti, E., Ariani, F., Coriolani, G., et al. (2019). MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype. EUROPEAN JOURNAL OF MEDICAL GENETICS, 1-6.|
|Appare nelle tipologie:||1.1 Articolo in rivista|