Figure 3.

Sequencing analysis of COL2A1. (A) A 3508C>T substitution was identified in the proband, as indicated by the arrow within the antisense strand of exon 50 in the COL2A1 gene, indicating a heterozygous c.3508G>A mutation. This mutation may result in the replacement of glycine by serine at codon 1,170 in COL2A1. This transition was also detected in other affected family members, excluding subject II-1. (B) The mutation was not detected in unaffected family members or the 20 sporadic patients. COL2A1, collagen type II α1 chain.