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 7.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Amino Acid Oxidoreductases / genetics*
  • Amino Acid Sequence
  • Arthritis
  • Base Sequence
  • Child
  • Collagen Diseases / genetics
  • Connective Tissue Diseases
  • Consanguinity
  • Family
  • Female
  • Genes, Recessive
  • Hearing Loss, Sensorineural
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation, Missense*
  • Pedigree
  • Retinal Detachment

Substances

  • Amino Acid Oxidoreductases
  • LOXL3 protein, human

Supplementary concepts

  • Stickler syndrome, type 1