Haploinsufficiency of the miR-873/miR-876 microRNA cluster is associated with craniofacial abnormalities

Costas Koufaris, Gregoris Papagregoriou, Ludmila Kousoulidou, Maria Moutafi, Maithé Tauber, Béatrice Jouret, Isabelle Kieffer, Constantinos Deltas, George A. Tanteles, Violetta Anastasiadou, Philippos C. Patsalis, Carolina Sismani

Research output: Contribution to journalArticlepeer-review

13 Citations (Scopus)


MicroRNA haploinsufficiency has been associated with developmental defects in only a limited number of cases. Here we report a de novo genomic microdeletion that includes the LINGO2 gene as well as two microRNA genes, MIR873 and MIR876, in a patient with craniofacial abnormalities - in particular macrocephaly and hypertelorism - and learning difficulties. Subsequent analysis revealed that the microRNAs affected by this de novo microdeletion form a mammalian-lineage, neuronal tissue-enriched cluster. In addition, bioinformatic analysis and experimental data indicate that miR-873 is involved in the regulation of the Hedgehog signaling, an essential pathway involved in craniofacial patterning and differentiation. Collectively these observations are consistent with a role of the miR-873/miR-876 microRNA cluster in physiological cranial bone development and indicate that mutations affecting these microRNAs could be a rare cause of developmental defect in humans.

Original languageEnglish
Pages (from-to)95-100
Number of pages6
Issue number1
Publication statusPublished - 25 Apr 2015


  • Craniofacial
  • Developmental defect
  • Haploinsufficiency
  • Hedgehog
  • MiR-873
  • MiR-876


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