RGD Reference Report - Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I. - Rat Genome Database

RGD Reference Report - Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I. - Rat Genome Database

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Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I.
Authors:	Michalickova, K Susic, M Willing, MC Wenstrup, RJ Cole, WG
Citation:	Michalickova K, etal., Hum Mol Genet 1998 Feb;7(2):249-55.
RGD ID:	734809
Pubmed:	PMID:9425231 (View Abstract at PubMed)
Ehlers-Danlos syndrome (EDS) is a heterogeneous connective tissue disorder that severely impairs the structure and function of the skin, joints, eyes and blood vessels. We have identified mutations of the COL5A2 gene, which encodes the alpha2(V) chain of type V collagen, in two unrelated patients with the severe type I form of EDS. The first proband was heterozygous for a 7 bp deletion that resulted in skipping of exon 27 while the second proband was heterozygous for a single nucleotide substitution that resulted in skipping of exon 28. Cultured dermal fibroblasts from both probands produced about equal amounts of the normal and mutant alpha2(V) mRNAs and protein chains. The dermis from the first proband contained a sparse collagen fibrillar network with great variability in collagen fibril sizes and shapes. The dermal collagens were also abnormally soluble. Bone cells from the first proband also produced about equal amounts of the normal and mutant alpha2(V) mRNAs. However, the collagen fibrillar architecture and collagen solubility of the bone matrix were normal. Our findings show that heterozygous mutations of the COL5A2 gene can produce the EDS type I phenotype. They also suggest that type V collagen plays a more important role in collagen fibrillogenesis of dermis than that of bone.

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Object Symbol	Species	Term	Qualifier	Evidence	With	Notes	Source	Original Reference(s)
COL5A2	Human	Ehlers-Danlos syndrome		IAGP		EDS type 1, OMIM:130000, EDS type 2, OMIM:130010, DNA:deletions	RGD
Col5a2	Rat	Ehlers-Danlos syndrome		ISO	RGD:736788	EDS type 1, OMIM:130000, EDS type 2, OMIM:130010, DNA:deletions	RGD
Col5a2	Mouse	Ehlers-Danlos syndrome		ISO	RGD:736788	EDS type 1, OMIM:130000, EDS type 2, OMIM:130010, DNA:deletions	RGD

Genes (Rattus norvegicus)


Col5a2 (collagen type V alpha 2 chain)

Genes (Mus musculus)


Col5a2 (collagen, type V, alpha 2)

Genes (Homo sapiens)


COL5A2 (collagen type V alpha 2 chain)