Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family.

Abstract excerpt

Heterozygous sequence variants of the COL2A1 gene cause a phenotypic spectrum collectively called type II collagenopathies. Here, we describe a COL2A1 sequence variant, c.2957C>T, p.Pro986Leu in the triple helical domain, which is a Y-position substitution in exon 41 of the repeating triplet sequence Gly-X-Y of the proα1(II) chain. This sequence variant was associated with a mild spondyloepiphyseal dysplasia...

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