An Ehlers-Danlos syndrome type VIA patient with cystic malformations of the meninges

European Journal of Dermatology

Volumn 15, Issue 5, 2005, Pages 353-358

  Yeowell, Heather N ^a   Walker, Linda C ^a   Neumann, Luitgard M ^b  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

Allelic mutation frequency; Collagen disorder; Cystic malformation of meninges; Duplication mutation; Ehlers Danlos syndrome type VIA; Kyphoscoliosis; Lysyl hydroxylase deficiency; Skin fibroblasts

Indexed keywords

COMPLEMENTARY DNA; DNA FRAGMENT; GENOMIC DNA;

ALLELE; ARTICLE; CONTROLLED STUDY; EHLERS DANLOS SYNDROME; ELECTROPHORESIS; EXON; GENE DUPLICATION; GENE MUTATION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MENINX; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SKIN FIBROBLAST;

CELLS, CULTURED; CHILD; DERMIS; EHLERS-DANLOS SYNDROME; FEMALE; GENE FREQUENCY; HOMOZYGOTE; HUMANS; MENINGES; MUTATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE;

EID: 25144478373     PISSN: 11671122     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

1. 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. New York: Wiley-Liss. 2002: 431-523.
2. 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 2000; 71: 212-24.
3. Hautala T, Heikkinen J, Kivirikko KI, Myllyla R. A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings. Genomics 1993; 15: 399-404.
4. Heikkinen J, Hautala T, Kivirikko KI, Myllyla R. Structure and expression of the human lysyl hydroxylase gene (PLOD): introns 9 and 16 contain Alu sequences at the sites of recombination in Ehlers-Danlos syndrome type VI patients. Genomics 1994; 24: 464-71.
5. Pousi B, Hautala T, Heikkinen J, Pajunen L, Kivirikko KI, Myllyla R. Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndrome. Am J Hum Genet 1994; 55: 899-906.
6. 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 2004; 131A: 155-62.
7. Brunk I, Stover B, Ikonomidou C, Brinckmann J, Neumann LM. Ehlers-Danlos syndrome type VI with cystic malformations of the meninges in a 7-year-old girl. Eur J Pediatr 2004; 163: 214-7.
8. Heikkinen J, Toppinen T, Yeowell HN, et al. Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome. Am J Hum Genet 1997; 60: 48-56.
9. Murad S, Sivarajah A, Pinnell SR. Serum stimulation of lysyl hydroxylase activity in cultured human skin fibroblasts. Connect Tissue Res 1985; 13: 181-6.
10. Chomczynski P, Sacchi N. Single step method for RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 1987; 162: 156-9.
11. Walker LC, Overstreet MA, Siddiqui A, et al. A novel mutation in the lysyl hydroxylase 1 (LH1) gene causes decreased LH activity in an Ehlers-Danlos VIA patient. J Invest Dermatol 2005; 124: 914-8.
12. 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 2000; 16: 90.
13. 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 1984; 36: 783-90.
14. Walker LC, Marini JC, Grange DK, Filie J, Yeowell HN. A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase gene. Mol Genet Metab 1999; 67: 74-82.