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NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter) AND Stickler syndrome type 1

Significance: Pathogenic
ClinVar: RCV000018904

Variant: NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter)

Type: Variant
Allele: NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter) 32399
Gene:
Type: single nucleotide variant
Location: Chr12: 47995904 - assembly GRCh38
Chr12: 48389687 - assembly GRCh37
References: dbSNP: 121912869
OMIM: 120140.0010

Condition

Disease: Stickler syndrome type 1

Citation

    In a family with Stickler syndrome (STL1; 108300), Ahmad et al. (1993) found a single-base mutation that converted codon 9 of the COL2A1 gene. (The amino acids of the alpha-1 chain were numbered with the standard convention in which the first amino acid in the triple-helical domain is numbered as +1 (Baldwin et al., 1989).) The mutation changed a CGA codon (arginine) to TGA (stop) codon. This mutation was located in exon 7. The PCR products contained both C and T, indicating that the patient was heterozygous for the mutation. The proband had been identified in a cleft palate clinic at the age of 1 year. He had severe myopia and was at the eighth percentile for height. Pelvic x-rays demonstrated small femoral heads with dumbbell-shaped enlargements of both ends of the femurs. Members in 3 generations and 4 sibships had severe myopia, often with other ocular manifestations.
PMID:2803268, PMID:8434604