Gene: [17q2/COL1A1] collagen, type I, alpha 1; osteogenesis imperfecta, types II/IV (dominant); Ehlers-Danlos syndrome, type VII (MIM:130060); [OI2 ]

MAF

 According to Xu-1988/89, the given gene COL1A1 and the nerve growth factor receptor gene (see GEM:17q2/NGFR) are physically linked and located about 400 kb apart each from other, since the gene-specific DNA probes recognize a common 400 kb fragment in the SalI hydrolizate of Chr 17 DNA."

HET

 MIM describes this type of osteogenesis imperfecta (OI) under the particular number (MIM:166210) as an independent locus. The other OI types that are yet not specified in molecular genetic terms, are de- scribed as dominant markers under the following numbers: 166200, independent locus OI1 tarda (with blue sclerae); 166220, independent locus OI4 mild type, which was also registered in HGM Catalogue but is excluded from the GEM Catalogue (see GEM:07q2/COL1A2); 166230, secondary marker OI with opalescent teeth, blue sclerae, wormian bones (without fractures); 166240, secondary marker OI1A with dentinogenesis imperfecta (opalescent teeth); and as recessive phenotypes under the following markers: 259400, independent locus OI2 congenita, vrolik type; 259410, secondary marker OI with microcephaly/cataracta; 259420, independent locus OI3 progresively deforming, with normal sclerae; As molecular genetic studies on mutational collagen diseases demonstrated, the MIM classification of all these pathologies, including numerous variants of Ehlers-Danlos syndrome, does not already correspond to the actual genetic heterogeneity of independent loci involved in the pathogenesis of these collagen diseases."

FAG

 On the collagen polypeptide multigene family, see FAM:COLL/00.0.

MAP

 Loci: GEM:17q111/D17Z1, GEM:17q2/GH1.
[1] See GEM:17q111/D17Z1."

REF

 PAT,MUT,MOL,CAG "Bateman JF &: JBC, 264, N19, 10960-10964, 1989
LOC,CYG "Church &: CCG, 27, 24-30, 1980
LOC,PRO "Huerre C &: PNAS, 79, 6627-6630, 1982
PAT,MUT,MOL,CAG "Labhard ME &: Mol Biol Med, 5, N3, 197-207, 1988
PAT,MUT,MOL,CAG "Marini JC &: JBC, 264, N20, 11893-11900, 1989
POL,MOL,PAG "Mottes M &: Hum Genet, 83, 369-372, 1989
LOC,PRO "Retief E &: Hum Genet, 69, 304-308, 1985
LOC,PRO "Solomon &: Ann Hum Genet, 48, 39-42, 1984
LOC,CYG "Sundar Raj CV &: PNAS, 74, 4444-4448, 1977
PAT,MUT,MOL,CAG "Sykes B &: AJHG, 46, 293-307, 1990
PAT,MUT,MOL,CAG "Tenni &: Hum Genet, 79, 245-250, 1988
MAP "Tsipouras P &: CCG, 47, 109-110, 1988
PAT,MUT,MOL,CAG "Wallis GA &: JBC, 265, N30, 18628-18633, 1990
LIN,MOL,MAG,MAF "Xu WM &: CCG, 51, (HGM10), 1111-1112, 1989
LIN,MOL,MAG,MAF "Xu WM &: PNAS, 85, N22, 8563-8567, 1988

KEY

 exce, bone

CLA

 coding, basic

LOC

 17 q21.3-22

MIM

 MIM: 120150

SYN

 OI2

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