Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype

European Journal of Pediatrics

Volumn 174, Issue 1, 2015, Pages 105-112

  Abdalla, Ebtesam M ^a   Rohrbach, Marianne ^b   Bürer, Céline ^b   Kraenzlin, Marius ^c   El Tayeby, Hazem ^d   Elbelbesy, Mervat F ^a   Nabil, Amira ^a   Giunta, Cecilia ^b  

^a ALEXANDRIA UNIVERSITY   (Egypt)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c UNIVERSITY HOSPITAL BASEL   (Switzerland)

^d Orthopedics Department   (Egypt)

Author keywords

Craniofacialdysmorphisms; EDS VIA; Ehlers Danlos syndrome; Kyphoscoliosis; LP to HP ratio; Microcorneae; PLOD1; Urinary pyridinolines

Indexed keywords

DEOXYPYRIDINOLINE; ENZYME; GLYCINE; LYSYL HYDROXYLASE 1; PYRIDINOLINE; TYROSINE; UNCLASSIFIED DRUG; LYSYL HYDROXYLASE 1, HUMAN; PLOD1 PROTEIN, HUMAN; PROCOLLAGEN LYSINE 2 OXOGLUTARATE 5 DIOXYGENASE;

ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL EVALUATION; CLINICAL FEATURE; COHORT ANALYSIS; CRANIOFACIAL MALFORMATION; EGYPTIAN; EHLERS DANLOS SYNDROME; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; INFANT; JOINT LAXITY; KYPHOSCOLIOSIS; LOSS OF FUNCTION MUTATION; MALE; PHENOTYPE; PLOD1 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; RARE DISEASE; SKIN FRAGILITY; CRANIOFACIAL ABNORMALITIES; DEFICIENCY; EHLERS-DANLOS SYNDROME; ENZYMOLOGY; GENETICS;

CHILD; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; EHLERS-DANLOS SYNDROME; FEMALE; HUMANS; INFANT; MALE; PHENOTYPE; PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE;

EID: 84926656463     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-014-2429-9     Document Type: Article

References (20)

1. Beighton P (1970) Serious ophthalmological complications in the Ehlers-Danlos syndrome. Br J Ophthalmol 54:263-268
2. Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ (1998) Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Am J Med Genet 77:31-37
3. Bodanowitz S, Hesse L, Pöstgens H, Kroll P (1997) Retinal detachment in Ehlers-Danlos syndrome. Treatment by pars plana vitrectomy. Ophthalmologe 94:634-637
4. De Paepe A, Malfait F (2012) The Ehlers-Danlos syndrome, a disorder with many faces. Clin Genet 82:1-11
5. Giunta C, Randolph A, Al-Gazali LI, Brunner HG, Kraenzlin ME, Steinmann B (2005) Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA). Am J Med Genet 143A:158-164
6. Giunta C, Randolph A, Steinmann B (2005) Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA). Mol Genet Metab 86:269-276
7. Hautala T, Heikkinen J, Kivirikko KI, Myllyla R (1993) A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings. Genomics 15:399-404
8. Heikkinen J, Toppinen T, Yeowell HN, Krieg T, Steinmann B, Kivirikko KI, Myllylä R (1997) 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 60:48-56
9. Hyland J, Ala-Kokko L, Royce P, Steinmann B, Kivirikko KI, Myllylä R (1992) A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI. Nat Genet 2:228-231
10. Kivirikko KI, Pihlajaniemi T (1998) Collagen hydroxylases and the protein disulfide isomerase subunit of prolyl 4-hydroxylases. Adv Enzymol Relat Areas Mol Biol 72:325-398
11. Kraenzlin ME, Kraenzlin CA, Meier C, Giunta C, Steinmann B (2008) Automated HPLC assay for urinary collagen cross-links: effect of age, menopause, and metabolic bone diseases. Clin Chem 54:1546-1553
12. Krane SM, Pinnell SR, Erbe RW (1972) Lysyl-protocollagen hydroxylase deficiency in fibroblasts from siblings with hydroxylysinedeficient collagen. Proc Natl Acad Sci U S A 69:2899-2903
13. Kretz R, Hu L, Wettstein V, Leiteritz D, Häberle J (2012) Phytohemagglutinin stimulation of lymphocytes improves mutation analysis of carbamoylphosphate synthetase 1. Mol Genet Metab 106: 375-378
14. Orphanet Report Series, Rare Diseases collection. Prevalence of rare diseases: Bibliographic data. June 2014 Number 2
15. Pousi B, Hautala T, Heikkinen J, Pajunen L, Kivirikko KI, Myllyla R (1994) 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 55:899-906
16. Rohrbach M, Vandersteen A, Yiş U, Serdaroglu G, Ataman E, Chopra M, Garcia S, Jones K, Kariminejad A, Kraenzlin M, Marcelis C, Baumgartner M, Giunta C (2011) Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation. Orphanet J Rare Dis 6:46
17. Smith P (1980) On the size of the corneae in relation to age, sex, refraction, and primary glaucoma. TransOphthalmol SocU K 10:68- 78
18. Steinmann B, Eyre DR, Shao P (1995) Urinary pyridinoline crosslinks in Ehlers-Danlos syndrome type VI. Am J Hum Genet 57: 1505-1508
19. Steinmann B, Royce P, Superti-Furga A (2002) The Ehlers-Danlos Syndrome, in “Connective Tissue and its Heritable Disorders. Molecular, Genetic, and Medical Aspects” (Royce P.M., Steinmann B., eds): 2nd edition, Wiley, New York, pp. 431-523
20. Yiş U, Dirik E, Chambaz C, Steinmann B, Giunta C (2008) Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI). Neuromuscul Disord 15:210-214