A missense mutation in Col1A1 in a Jewish Israeli patient with mild osteogenesis imperfecta, detected by DGGE

Human Genetics

Volumn 101, Issue 1, 1997, Pages 22-25

  Gat Yablonski, Galia ^a   Ries, Liat ^a   Lev, Dorit ^a,b   Goldman, Boleslaw ^a   Friedman, Eitan ^a  

^a GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

^b WOLFSON MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 1; COLLAGEN; PRIMER DNA;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; DENATURING GRADIENT GEL ELECTROPHORESIS; FEMALE; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; OSTEOGENESIS IMPERFECTA; POINT MUTATION; PRIORITY JOURNAL; TECHNIQUE; ADULT; CONGENITAL MALFORMATION; GENETICS; ISRAEL; JEW; METHODOLOGY; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; SCLERA;

ADULT; BASE SEQUENCE; COLLAGEN; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FEMALE; GERM-LINE MUTATION; HUMANS; ISRAEL; JEWS; MALE; OSTEOGENESIS IMPERFECTA; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; SCLERA;

EID: 0031284879     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050579     Document Type: Article

References (20)

1. Bateman JF, Moeller I, Hannagan M, Chan D, Cole WG (1992) Characterization of three osteogenesis imperfecta collagen alpha 1 (I) glycine to serine mutations demonstrating a position-dependent gradient of phenotypic severity. Biochem J 288 : 131-135
2. Byers PH (1990) Brittle bones-fragile molecules: disorders of collagen gene structure and expression. Trends Genet 6 : 293-300
3. Byers PH, Tsipuras P, Bonadio JF, Starman BJ, Schwanz RC (1988) Perinatal osteogenesis imperfecta (OI) type II: a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen. Am J Hum Genet 42 : 237-248
4. Cole WG, Dalgleish R (1995) Perinatal lethal osteogenesis imperfecta. J Med Genet 32 : 284-289
5. Constantinou CD, Pack M, Young SB, Prockop DJ (1990) Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for a glycine 904 in a type I pro-collagen gene (Col1Al). Am J Hum Genet 47 : 670-679
6. D'Alessio M, Bernard M, Pretorious PJ, Wet W de, Ramirez F (1988) Complete nucleotide sequence of the region encompassing the first twenty-five exons of the human proa1(I) collagen gene (COL1A1). Gene 67 : 105-115
7. Deak SB, Scholz PM, Amenta PS, Constantinou CD, Levi-Minzi SA, Gonzalez-Lavin L, Mackenzie JW (1991) The substitution of arginine for glycine 85 of the a 1(I) procollagen chain results in mild osteogenesis imperfecta. J Biol Chem 266 : 21827-21832
8. Kuivaniemi H, Tromp G, Prockop DJ (1991) Mutations in collagen genes: cause of rare and some common diseases in humans. FASEB J 5 : 2052-2060
9. Lerman LS, Fischer SG, Hurley I, Silverstein K, Lumelsky N (1984) Sequence-determined DNA separation. Annu Rev Biophys Bioeng 13 : 399-423
10. Mackay K, Byers PH, Dalgleish R (1993) An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the al chain of the type I collagen; application to four patients with osteogenesis imperfecta. Hum Mol Genet 2 : 1155-1160
11. Myers RM, Fischer SG, Lerman LS, Maniatis T (1985) Nearly all single base substitution in DNA fragment joined to a GC clamp can be detected by denaturing gradient gel electrophoresis. Nucleic Acids Res 13 : 3131-3145
12. Myers RM, Maniatis T, Lerman LS (1987) Detection and localization of single base changes by denaturing gradient gel electrophoresis. Methods Enzymol 155 : 501-525
13. Prockop DJ (1992) Mutations in collagen genes as a cause of connective tissue diseases. N Engl J Med 326 : 540-546
14. Prockop DJ, Clinton TB, Constantinou CD (1990) Mutations in type I procollagen genes that cause osteogenesis imperfecta. Adv Hum Genet 19 : 105-132
15. Redford-Badwal DA, Stover ML, Valli M, McKinstry MB, Rowe DW (1996) Nuclear retention of Coll A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta. J Clin Invest 97 : 1035-1040
16. Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning: a laboratory manual, 2nd edn. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY
17. Sheffield VC, Beck JS, Kweitek AE, Sandstorm DW, Stone EM (1993) The sensitivity of single strand conformation polymorphism analysis for the detection of base substiutiton. Genomics 16 : 325-332
18. Wang Q, Forlino A, Marini JC (1996) Alternative splicing in Col1A1 mRNA leads to a partial null allele and two in-frame forms with structural defects in non-lethal osteogenesis imperfecta. J Biol Chem 271 : 28 617-28 623
19. Westerhausen A, Constantinou CD, Pack M, Peng M, Hanning C, Olsen AS, Prockop DJ (1991) Completion of the last half of the structure of the human gene for the proα1(I) chain of the type I procollagen (COL1A1). Matrix 11 : 375-379
20. Willing MC, Deschenes SP, Slayton RL, Roberts EJ (1996) Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains. Am J Hum Genet 59 : 799-809