Alström syndrome (ALMS) is a rare genetic disorder that has been included in the ciliopathies group, in the last few years. Ciliopathies are a growing group of diseases associated with defects in ciliary structure and function. The development of more powerful genetic approaches has been replaced the strategies to follow for getting a successful molecular… (More)
Objective Since the molecular basis underlying ciliopathies such as Bardet-Biedl (BBS) or Alström (ALMS) syndromes is not fully understood, we hypothesised that changes in pattern of DNA methylation, due to its role in embryo-genesis and differentiation, could be a mechanism that explains the pathogenesis of these diseases.
Objective Bardet-Biedl syndrome (BBS) is a rare disease characterized by a high genetic heterogeneity, accounting for 75% of affected families. As part of the next-generation technology , whole-exome sequencing (WES) allows all exons of the genome to be sequenced at once. Here we show the use of WES as a useful approach in BBS families in which mutations in… (More)