Hum Genet. 1991 Dec;88(2):125-9.

Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family.

Sokolov BP, Prytkov AN, Tromp G, Knowlton RG, Prockop DJ.

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Department of Biochemistry and Molecular Biology, Jefferson Institute of Molecular Medicine, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107.

Abstract

Ehlers-Danlos syndrome (EDS) type I is a generalized connective tissue disorder, the major manifestations of which are soft, velvety hyperextensible skin and moderately severe joint hypermobility. The gene defect or defects causing EDS type I have not yet been defined, but previous observations suggested that the syndrome may be caused by mutations in the genes for type-I collagen (COL1A1 and COL1A2) or type-III collagen (COL3A1). Here, we performed linkage studies for these three genes in large Azerbaijanian family with EDS type I. Three polymorphisms in the COL3A1 gene, two in the COL1A1 gene, and one in the COL1A2 gene were tested using the polymerase chain reaction. The data obtained excluded linkage of any of the three genes to EDS type I in the family.

PMID:: 1684560; [PubMed - indexed for MEDLINE]

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Cited by 5 PubMed Central articles

Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II). [Am J Hum Genet. 2000]
Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II).
Schwarze U, Atkinson M, Hoffman GG, Greenspan DS, Byers PH. Am J Hum Genet. 2000 Jun; 66(6):1757-65. Epub 2000 May 4.
COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS. [Am J Hum Genet. 2000]
COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS.
Wenstrup RJ, Florer JB, Willing MC, Giunta C, Steinmann B, Young F, Susic M, Cole WG. Am J Hum Genet. 2000 Jun; 66(6):1766-76. Epub 2000 Apr 24.
Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. [Am J Hum Genet. 1998]
Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations.
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