Elise Schaefer and colleagues present a whole-exome sequencing analysis of a consanguineous family in which two affected children presented typical Bardet–Biedl syndrome (BBS) features (retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism and cognitive impairment). They identified a novel homozygous splice-site mutation in IFT172, NM_015662.2: c.4428+3A>G.
Schaefer, Elise et al. Journal of Human Genetics.
"I have previously used Alamut Visual in the UK and it is an invaluable resource for variant curation which I was keen to bring into use in my new role in New Zealand. provides a convenient and user-friendly interface which pulls together literature searches, population databases and in silico prediction tools. This enables streamlining of the curation process and saves a lot of time."
Wellington Regional Genetics Laboratory, Wellington, New Zealand