Citation:
Hum Genet. 2015 Feb 7. [Epub ahead of print]
Abstract:
Stickler syndrome (SS) is a collagenopathy characterized by arthropathy and vitreoretinopathy with high myopia and cleft palate as common features. In a family with an autosomal recessive SS that does not map to genes known to cause autosomal recessive forms of SS, we combined autozygome and exome analysis to identify a novel missense variant in LOXL3 as the likely candidate cause. LOXL3 cross-links collagen II and its morphants phenocopy the craniofacial defects characteristic of collagen XI deficiency. We propose LOXL3 as a novel candidate gene for autosomal recessive SS.
Epub:
Yes
Link to Publication:
http://link.springer.com/article/10.1007%2Fs00439-015-1531-z
Organism or Cell Type:
zebrafish
Delivery Method:
microinjection