Mutation in type II procollagen (COL2Al) that substitutes aspartate for glycine [alpha]l-67 and that causes cataracts and retinal detachment: Evidence for molecular heterogeneity in the Wagner Syndrome and the stickler syndrome (Arthro-Ophthalmopathy)

Journal Article · Thu Jul 01 00:00:00 EDT 1993 · American Journal of Human Genetics; (United States)

OSTI ID:5852825

Koerkkoe, J; Ritvaniemi, P; Kiviirikko, K I; Ala-Kokko, L ^[1]; Haataja, L ^[2]; Kaeaeriaeinen, H ^[3]; Prockop, D J ^[4]

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1. Univ. of Oulu (Finland)
2. Univ. of Turku (Finland)
3. Univ. of Helsinki (Finland)
4. Jefferson Thomas Jefferson Univ., Philadelphia PA (United States)

A search for mutations in the gene for type II procollagen (COL2A1) was carried out in affected members of a family with early-onset cataracts, lattice degeneration of the retina, and retinal detachment. They had no symptoms suggestive of involvement of nonocular tissues, as is typically found in the Stickler syndrome. The COL2A1 gene was amplified with PCR, and the products were analyzed by denaturing gradient gel electrophoresis. The results suggested a mutation in one allele for exon 10. Sequencing of the fragment demonstrated a single-base mutation that converted the codon for glycine at position [alpha]1-67 to aspartate. The mutation was found in three affected members of the family available for study but not in unaffected members or 100 unrelated individuals. Comparison with previously reported mutations suggested that mutations introducing premature termination codons in the COL2A1 gene are a frequent cause of the Stickler syndrome, but mutations in the COL2A1 gene that replace glycine codons with codons for bulkier amino acid can produce a broad spectrum of disorders that range from lethal chondrodysplasias to a syndrome involving only ocular tissues, similar to the syndrome in the family originally described by Wagner in 1938. 38 refs., 4 figs., 3 tabs.

• OSTI ID: 5852825
• Journal Information: American Journal of Human Genetics; (United States), Vol. 53:1; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
COLLAGEN
GENE MUTATIONS
EYES
HEREDITARY DISEASES
DETECTION
ASPARTIC ACID
CATARACTS
DNA SEQUENCING
GLYCINE
RETINA
AMINO ACIDS
BODY
BODY AREAS
CARBOXYLIC ACIDS
DISEASES
FACE
HEAD
MUTATIONS
ORGANIC ACIDS
ORGANIC COMPOUNDS
ORGANS
PROTEINS
SCLEROPROTEINS
SENSE ORGANS
SENSE ORGANS DISEASES
STRUCTURAL CHEMICAL ANALYSIS
550400* - Genetics