Table 8.

Classic Ehlers-Danlos Syndrome: Gene-Specific Mechanism of Disease Causation

Gene 1Mechanism of Disease Causation
COL1A1 c.934C>TUnknown; possible dominant-negative activity
COL5A1
  • Haploinsufficiency: diminished type V collagen caused by nonsense or frameshift variants may alter normal collagen fibrillogenesis [Symoens et al 2012, Ritelli et al 2013].
  • Dominant-negative activity: the abnormal type V collagen interferes w/protein derived from the normal allele.
COL5A2 Likely dominant-negative activity; the abnormal forms interfere with protein derived from the normal allele.
1.

Genes from Table 1 in alphabetic order.

From: Classic Ehlers-Danlos Syndrome

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