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MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype.

Authors
  • Giliberti, Annarita1
  • Currò, Aurora1
  • Papa, Filomena Tiziana2
  • Frullanti, Elisa2
  • Ariani, Francesca1
  • Coriolani, Gianni3
  • Grosso, Salvatore3
  • Renieri, Alessandra4
  • Mari, Francesca1
  • 1 Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy. , (Italy)
  • 2 Medical Genetics, University of Siena, Siena, Italy. , (Italy)
  • 3 Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Siena, Italy. , (Italy)
  • 4 Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy. Electronic address: [email protected] , (Italy)
Type
Published Article
Journal
European journal of medical genetics
Publication Date
Jan 01, 2020
Volume
63
Issue
1
Pages
103627–103627
Identifiers
DOI: 10.1016/j.ejmg.2019.01.017
PMID: 30735726
Source
Medline
Keywords
Language
English
License
Unknown

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. Copyright © 2019 Elsevier Masson SAS. All rights reserved.

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