Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes

Human Genetics

Volumn 99, Issue 4, 1997, Pages 478-483

  De Paepe, Anne ^a   Nuytinck, Lieve ^a   Raes, Marc ^b   Fryns, Jean Pierre ^c  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b VIRGA JESSE HOSPITAL   (Belgium)

^c UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 1; MUTANT PROTEIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; FEMALE; FIBROBLAST CULTURE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; OSTEOGENESIS IMPERFECTA; PRIORITY JOURNAL; SIBLING;

CHILD; COLLAGEN; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; MALE; MUTATION; OSTEOGENESIS IMPERFECTA; PEDIGREE;

EID: 0030939051     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050392     Document Type: Article

References (16)

1. Barsh GS, Peterson KE, Byers PJ (1981) Peptide mapping of collagen chains using CNBr cleavage of proteins within polyacrylamide gels. Collagen Rel Res 1:543-548
2. Beighton P, Versfeld GA (1985) On the paradoxically high relative prevalence of osteogenesis imperfecta type III in the black population of South Africa. Clin Genet 27:398-401
3. Bonadio J, Holbrook HA, Gelinas RE, Jacobs J, Byers PH (1985) Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta. J Biol Chem 260:1734-1742
4. Byers PH (1993) Osteogenesis imperfecta. In: Royce Peter M, Steinmann Beat (eds) Connective tissue and its heritable disorders, Wiley-Liss, pp 317-350
5. Chomczynski P (1993) A reagent for the single-step simultaneous isolation of RNA, DNA and proteins from cell and tissue samples. Biotechniques 15:532-537
6. Deak SB, Nicholls A, Pope FM, Prockop DJ (1983) The molecular defect in a nonlethal variant of osteogenesis imperfecta. Synthesis of proα2(I) chains which are not incorporated into trimers of type I procollagen. J Biol Chem 258:15192-15197
7. John SNWM, Weitzner G, Rozen R, Scriver CR (1991) A rapid procedure for extracting genomic DNA from leukocytes. Nucleic Acids Res 19:408
8. Kuivaniemi H, Tromp G, Prockop DJ (1991) Mutations in collagen genes: causes of rare and some common diseases in humans. FASEB J 5:2052-2060
9. Laemmli UK (1975) Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227:680-685
10. Nicholls AC, Osse G, Schloon HG, Lenard HG, Deak S, Myers JC, Prockop DJ, et al (1984) The clinical features of homozygous α2(I) collagen deficient osteogenesis imperfecta. J Med Genet 21:257-262
11. Pihlajaniemi T, Dickson LA, Pope FM, Korhonen VR, Nicholls A, Prockop DJ, Myers JC (1984) Osteogenesis imperfecta: cloning of a pro-alpha2(I) collagen gene with a frameshift mutation. J Biol Chem 259:12941-12944
12. Sillence DO, Barlow KK, Cole WG, Dietrich S, Garber AP, Rimoin DL (1986) Delineation of the phenotype with reference to genetic heterogeneity. Am J Med Genet 23:821-832
13. Spotila LD, Sereda L, Prockop DJ (1992) Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus. Am J Hum Genet 51:1396-1405
14. Viljoen D, Beighton P (1987) Osteogenesis imperfecta type III: an ancient mutation in Africa ? Am J Med Genet 27:907-912
15. Wallis GA, Sykes B, Byers PH, Mathew CG, Viljoen D, Beighton P (1993) Osteogenesis imperfecta type III: mutations in the type I collagen structural genes. COL1A1 and COL1A2, are not necessarily responsible. J Med Genet 30:492-496
16. White MB. Carvalho M, Derse D, O'Brien SJ, Dean M (1992) Detecting single base substitutions as heteroduplex polymorphisms. Genomics 12:301-306