Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI

Journal Article · Fri Dec 01 04:00:00 EST 1995 · American Journal of Human Genetics

OSTI ID:186222

Steinmann, B; Eyre, D R; Shao, P ^[1]

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1. Univ. Children`s Hospital, Zurich (Switzerland)

The Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable disorders of connective tissue, affecting skin, ligaments, joints, blood vessels, and internal organs. The main general findings are hyperextensibility and bruisability of the skin, with abnormal scarring, and joint laxity. On the basis of clinical, genetic, and biochemical findings, EDS can be classified today into at least 10 different types. Among them, EDS type VI (MIM 225400) is characterized by marked muscular hypotonia from birth; kyphoscoliosis, often present at birth and progressing to a severe form; marfanoid habitus; eye involvement, often with microcornea and a tendency of the eyeballs to rupture after minor trauma; osteoporosis; and sometimes spontaneous rupture of arteries. The disorder is due to a deficiency of lysyl hydroxylase (E.C.1.14.11.4), inherited in an autosomal recessive mode. Traditionally, the clinical diagnosis is confirmed by an insufficiency of hydroxylysine, on analysis of hydrolyzed dermis and/or reduced enzyme activity in cultured skin fibroblasts. 12 refs., 1 tab.

• OSTI ID: 186222
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 6 Vol. 57; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
ENZYMES
GENE MUTATIONS
GENES
GENETICS
HEREDITARY DISEASES
HUMAN POPULATIONS
PHENOTYPE
RECESSIVE MUTATIONS
SKIN DISEASES