What is it about?
We delineate a novel form of Bardet Biedl syndrome of obesity, developmental delay and retinitis pigmentosa (now termed BBS24), and show that it is caused by mutation in SCAPER. Furthermore, we show that SCAPER acts in cilia formation / elongation, in line with the "ciliopathy" phenotype of the disease.
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Why is it important?
This manuscript identifies and delineates a new form of Bardet Biedl syndrome (BBS) due to a mutation in SCAPER. And it defines a role of SCAPER in cilia formation.
Perspectives
Ohad Wormser of our lab studied a hereditary disease of obesity, developmental delay and retinitis pigmentosa, demonstrating that the disease is due to mutation in SCAPER. As the disease phenotype was similar to that of ciliopathies, Ohad insisted that SCAPER is likely involved in ciliary formation or function - and indeed proved that to be true. Perseverance in its best.
Ohad Birk
Soroka Medical Center and Ben Gurion University
Read the Original
This page is a summary of: SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome, European Journal of Human Genetics, February 2019, Springer Science + Business Media,
DOI: 10.1038/s41431-019-0347-z.
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Contributors
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