Gene: [17q2/COL1A1] collagen, type I, alpha 1; osteogenesis imperfecta, types II/IV (dominant); Ehlers-Danlos syndrome, type VII (MIM:130060); [OI2 ]
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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." |
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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." |
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FAG |
On the collagen polypeptide multigene family, see FAM:COLL/00.0. |
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MAP |
Loci: GEM:17q111/D17Z1, GEM:17q2/GH1.
[1] See GEM:17q111/D17Z1." |
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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 |
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KEY |
exce, bone |
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CLA |
coding, basic |
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LOC |
17 q21.3-22 |
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MIM |
MIM: 120150 |
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SYN |
OI2 |
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