title: LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome.
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.
authors: Developmental Genetics Unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, MBC-03, PO BOX 3354, Riyadh, 11211, Saudi Arabia.
authors: Fatema
authors: F
authors: Alzahrani
authors: Selwa A
authors: SA
authors: Al Hazzaa
authors: Hamsa
authors: H
authors: Tayeb
authors: Fowzan S
authors: FS
authors: Alkuraya
mesh_terms: D000293:Adolescent; D000594:Amino Acid Oxidoreductases / Q000235:genetics*; D000595:Amino Acid Sequence; D001168:Arthritis; D001483:Base Sequence; D002648:Child; D003095:Collagen Diseases / Q000235:genetics; D003240:Connective Tissue Diseases; D003241:Consanguinity; D005190:Family; D005260:Female; D005808:Genes, Recessive; D006319:Hearing Loss, Sensorineural; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D012163:Retinal Detachment
chemical_list: D000594:Amino Acid Oxidoreductases; C435668:LOXL3 protein, human