Generation and characterization of Ccdc28b mutant mice links the Bardet-Biedl associated gene with mild social behavioral phenotypes

CCDC28B (coiled-coil domain-containing protein 28B) was identified as a modifier in the ciliopathy Bardet-Biedl syndrome (BBS). Our previous work in cells and zebrafish showed that CCDC28B plays a role regulating cilia length in a mechanism that is not completely understood. Here we report the generation of a Ccdc28b mutant mouse using CRISPR/Cas9 (Ccdc28b mut). Depletion of CCDC28B resulted in a mild phenotype. Ccdc28b mut animals i) do not present clear structural cilia affectation, although we did observe mild defects in cilia density and cilia length in some tissues, ii) reproduce normally, and iii) do not develop retinal degeneration or obesity, two hallmark features of reported BBS murine models. In contrast, Ccdc28b mut mice did show clear social interaction defects as well as stereotypical behaviors. This finding is indeed relevant regarding CCDC28B as a modifier of BBS since behavioral phenotypes have been documented in BBS. Overall, this work reports a novel mouse model that will be key to continue evaluating genetic interactions in BBS, deciphering the contribution of CCDC28B to modulate the presentation of BBS phenotypes. In addition, our data underscores a novel link between CCDC28B and behavioral defects, providing a novel opportunity to further our understanding of the genetic, cellular, and molecular basis of these complex phenotypesCSIC: I+D 2016-55

SINDROME DE SILVER-RUSSELL, REPORTE DE UN CASO

<p class="MsoNormal" style="text-align: justify; margin: 0cm 0cm 0pt;"><span style="font-family: ">El síndrome Silver-Russell es un desorden genético (hipometilación en la región centro 1 (ICR1) del<span style="mso-spacerun: yes;">  </span>IGF2 /H19<span style="mso-spacerun: yes;">  </span>locus 11p15) y clínicamente heterogéneo, caracterizado por retardo del crecimiento intrauterino, baja talla y peso, y perímetro cefálico normal. Su tratamiento se basa en la<span style="mso-spacerun: yes;">  </span>hormona del crecimiento. Se presenta el caso de una niña de 5 años que ingresa al servicio de Estomatología Pediátrica de la Fundación HOMI Hospital de la Misericordia de Bogotá, con antecedente de retardo del crecimiento intrauterino, manejada con dieta rica en carbohidratos y uso de biberón hasta los 2 y medio años, Al examen talla 88 cm y peso 9 Kg,<span style="mso-spacerun: yes;">  </span>cara forma triangular, frente prominente, micrognatismo mandibular, apiñamiento dental y caries de la infancia temprana. Se diagnostica con retardo de la edad ósea, dental y morfológica. El tratamiento programa individual riesgo de caries y proveer una alta calidad de salud oral.</span></p