A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an ehlers-danlos VIA patient

Journal of Investigative Dermatology

Volumn 124, Issue 5, 2005, Pages 914-918

  Walker, Linda C ^a   Overstreet, Mayra A ^a   Siddiqui, Adnan ^a   De Paepe, Anne ^b   Ceylaner, Gulay ^c   Malfait, Fransiska ^b   Symoens, Sofie ^b   Atsawasuwan, Phimon ^d   Yamauchi, Mitsuo ^d   Ceylaner, Serdar ^c   Bank, Ruud A ^e   Yeowell, Heather N ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b GHENT UNIVERSITY HOSPITAL   (Belgium)

^c Department of Genetics ^*  (Turkey)

^d UNIVERSITY OF NORTH CAROLINA   (United States)

^e TNO   (Netherlands)

Author keywords

Collagen cross linking; Collagen disorders; Collagen hydroxylation; Human skin fibroblasts; Mutation analysis

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; PROCOLLAGEN LYSINE 2 OXOGLUTARATE 5 DIOXYGENASE;

ANAMNESIS; ARTICLE; BACULOVIRUS EXPRESSION SYSTEM; CASE REPORT; CROSS LINKING; DNA DETERMINATION; EHLERS DANLOS SYNDROME; ENZYME ACTIVE SITE; ENZYME ACTIVITY; FEMALE; GENE EXPRESSION; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; JOINT LAXITY; KYPHOSCOLIOSIS; MUTATIONAL ANALYSIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FOLDING; SKIN FIBROBLAST;

EID: 20944446258     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0022-202X.2005.23727.x     Document Type: Article

References (17)

1. Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ: Ehlers-Danlos Syndromes: Revised Nosology, Villefranche, 1997. Am J Med Genet 77:31-37, 1998
2. Byers PH: Disorders of collagen biosynthesis and structure. In: Scriver CR, Beaudet AL, Sly WS, Vogelstein B, Kintler KW, Childs B (eds). The Metabolic and Molecular Bases of Inherited Disease, Vol. 8. New York: McGraw-Hill, 2001; p 5241-5285
3. Chomczynski P, Sacchi N: Single step method for RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156-159, 1987
4. Dembure PP, Priest JH, Snoddy SC, Elsas LJ: Genotyping and prenatal assessment of collagen lysyl hydroxylase deficiency in a family with Ehlers-Danlos syndrome, type VI. Am J Hum Genet 36:783-790, 1984
5. Kivirikko KI, Pihlajaniemi T: Collagen hydroxylases and the protein disulfide isomerase subunit of prolyl 4-hydroxylases. Adv Enzymol Relat Areas Mol Biol 72:325-398, 1998
6. Krol BJ, Murad S, Walker LC, Marshall MK, Clark WL, Pinnell SR, Yeowell HN: The expression of a functional, secreted human lysyl hydroxylase in a baculovirus system. J Invest Dermatol 106:11-16, 1996
7. Maquat LE: When cells stop making sense: Effects of nonsense codons on RNA metabolism in vertebrate cells. RNA 1:453-465, 1995
8. Mercer DK, Nicol PF, Kimbembe C, Robins SP: Identification, expression, and tissue distribution of the three rat lysyl hydroxylase isoforms. Biochem Biophys Res Comm 307:803-809, 2003
9. Murad S, Sivarajah A, Pinnell SR: Serum stimulation of lysyl hydroxylase activity in cultured human skin fibroblasts. Connect Tissue Res 13:181-186, 1985
10. Nuytinck L, Dalgleish R, Spotila L, Renard JP, Van Regemorter N, De Paepe A: Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypes. Hum Genet 97:324-329, 1996
11. Pinnell SR, Krane SM, Kenzora JE, Glimcher MJ: A heritable disorder of connective tissue. Hydroxylysine-deficient collagen disease. N Engl J Med 286:1013-1020, 1972
12. Steinmann B, Royce P, Superti-Furga A: The Ehlers-Danlos syndrome. In: Royce P, Steinmann B (eds). Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects, Vol. 2. New York: Wiley-Liss, 2002; p 431-523
13. Walker LC, Overstreet MA, Willing MC, et al: Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation. Am J Med Genet 131A:155-162, 2004a
14. Walker LC, Teebi A, Marini JC, et al: Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene. Mol Genet Metab 83:312-321, 2004b
15. Yeowell HN, Allen JD, Walker LC, Overstreet MA, Murad S, Thai S-FY: Deletion of cysteine 369 in lysyl hydroxylase 1 eliminates enzyme activity and causes Ehlers-Danlos syndrome type VI. Matrix Biol 19:37-46, 2000a
16. Yeowell HN, Walker LC: Mutations in the lysyl hydroxylase gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI. Mol Genet Metab 71:212-224, 2000
17. Yeowell HN, Walker LC, Farmer BT, Heikkinen J, Myllyla R: Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehler-Danlos syndrome type VI: Prenatal exclusion of the disorder in one family. Hum Mutat 16:90-98, 2000b