Table 2.

Allelic Disorders

GeneDisorderComment
COL9A1 Stickler Syndrome, recessive type, COL9A1-related
COL9A2 Stickler Syndrome, recessive type, COL9A2-related
COL9A3 Stickler Syndrome, recessive type, COL9A3-related
MATN3 1Spondyloepimetaphyseal dysplasia (SEMD), MATN3-related (OMIM 608728)
  • Described in consanguineous family w/AR form of SEMD. 2
  • Affected persons presented w/disproportionate short stature, severe bowing of lower limbs, & lumbar lordosis.

AR = autosomal recessive

1.

Studies have shown that the p.Thr303Met variant allows the secretion of matrilin-3 [Otten et al 2005] and does not affect collagen affinity, but can promote the formation of wider collagen fibrils in cartilage [Otten et al 2010].

2.

All affected members of this family were homozygous for a p.Cys304Ser pathogenic variant in the first EGF domain of matrilin-3. Previous studies have demonstrated that p.Cys304Ser causes the intracellular retention of misfolded matrilin-3 [Otten et al 2005], suggesting that this is a key disease mechanism and is therefore another example of an endoplasmic reticulum stress-related skeletal disease [Briggs et al 2015].

From: Multiple Epiphyseal Dysplasia, Autosomal Dominant

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