Haploinsufficiency of the miR-873/miR-876 microRNA cluster is associated with craniofacial abnormalities
Papagregoriou, Gregory N.
Tauber, Maïthé Thérèse
Constantinou-Deltas, Constantinos D.
Tanteles, George A.
Anastasiadou, Violetta C.
Patsalis, Philippos C.
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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. © 2015 Elsevier B.V.
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