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.
Giliberti, A., Curro', A., Papa, F.T., Frullanti, E., Ariani, F., Coriolani, G., et al. (2020). MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype. EUROPEAN JOURNAL OF MEDICAL GENETICS, 63(1), 1-6 [10.1016/j.ejmg.2019.01.017].
MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype
GILIBERTI, ANNARITA;CURRO', AURORA;Papa F. T.;FRULLANTI, ELISA;Ariani F.;Coriolani G.;Grosso S.;Renieri A.;Mari F.
2020-01-01
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.File | Dimensione | Formato | |
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https://hdl.handle.net/11365/1078694