The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene.

ABSTRACT:

Background

The majority of COL2A1 missense mutations are substitutions of obligatory glycine residues in the triple helical domain. Only a few non-glycine missense mutations have been reported and among these, the arginine to cysteine substitutions predominate.

Objective

To investigate in more detail the phenotype resulting from arginine to cysteine mutations in the COL2A1 gene.

Methods

The clinical and radiographic phenotype of all patients in whom an arginine to cysteine mutation in the COL2A1 gene was identified in our laboratory, was studied and correlated with the abnormal genotype. The COL2A1 genotyping involved DHPLC analysis with subsequent sequencing of the abnormal fragments.

Results

Six different mutations (R75C, R365C, R519C, R704C, R789C, R1076C) w

SUBMITTER: Hoornaert KP 

PROVIDER: S-EPMC2564515 | biostudies-literature | 2006 May

REPOSITORIES: biostudies-literature