The role of transitional areas as avian biodiversity centres

Aim With the ever-increasing threats to biodiversity, efforts are being directed towards identifying hotspots of special importance for conservation. In particular, there has been an effort to identify irreplaceable regions that are especially rich in rare species. Areas of transition between ecological systems in which multiple species coincide are expected, almost by definition, to be species-rich. Here, we examine whether this is simply a result of an overlap between two communities in boundary regions, or whether boundary areas also hold concentrations of rare (e.g. range-limited) species. We ask whether an analysis that includes areas of transition may be a useful contribution to the identification of biodiversity centres

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

Joubert syndrome-related disorders (JSRDs) are autosomal recessive pleiotropic conditions sharing a peculiar cerebellar and brainstem malformation known as the 'molar tooth sign' (MTS). Recently, mutations in a novel ciliary gene, RPGRIP1L, have been shown to cause both JSRDs and Meckel-Gruber syndrome. We searched for RPGRIP1L mutations in 120 patients with proven MTS and phenotypes representative of all JSRD clinical subgroups. Two homozygous mutations, the previously reported p.T615P in exon 15 and the novel c.2268_2269delA in exon 16, were detected in 2 of 16 families with cerebello-renal presentation (similar to 12%). Conversely, no pathogenic changes were found in patients with other JSRD phenotypes, suggesting that RPGRIP1L mutations are largely confined to the cerebello-renal subgroup, while they overall represent a rare cause of JSRD (< 2%)