例如:"lncRNA", "apoptosis", "WRKY"

LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome.

Hum. Genet.2015 Apr;134(4):451-3. doi:10.1007/s00439-015-1531-z. Epub 2015 Feb 07
Fatema Alzahrani 1 , Selwa A Al Hazzaa , Hamsa Tayeb , Fowzan S Alkuraya
Fatema Alzahrani 1 , Selwa A Al Hazzaa , Hamsa Tayeb , Fowzan S Alkuraya

[No authors listed]

Author information
  • 1 Developmental Genetics Unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, MBC-03, PO BOX 3354, Riyadh, 11211, Saudi Arabia.

摘要


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.