Table 4.

Allelic Disorders

GeneDisorderReference
COL1A1 Caffey disease (infantile cortical hyperostosis) Caffey Disease
Classic Ehlers-Danlos syndrome 1 Classic Ehlers-Danlos Syndrome
Arthrochalasia Ehlers-Danlos syndrome 2OMIM 130060
COL1A2 Arthrochalasia Ehlers-Danlos syndrome 2OMIM 617821
Cardiac-valvular Ehlers-Danlos syndrome 3OMIM 225320
1.

<1% of classic Ehlers-Danlos syndrome is attributed to pathogenic variants in COL1A1. Although most pathogenic variants in COL1A1 cause osteogenesis imperfecta, specific missense and splice site variants have been associated with specific Ehlers-Danlos syndrome subtypes (see Classic Ehlers-Danlos Syndrome, Molecular Genetics).

2.

Affected individuals have congenital bilateral hip dislocation, short stature, joint hypermobility, osteopenia, kyphoscoliosis, velvety hyperextensible skin, and mild bone fragility. The arthrochalasia form of Ehlers-Danlos syndrome results from loss of exon 6 of either COL1A1 or COL1A2.

3.

The cardiac-valvular form of Ehlers-Danlos syndrome results from biallelic COL1A2 pathogenic variants.

From: COL1A1/2 Osteogenesis Imperfecta

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