Limb disorders

Gene: COL2A1

Comment on list classification: 3 patients with spondyloperipheral dysplasia and phenotypic features such as brachydactyly have been reported, with plausible disease causing mutations in COL2A1

Created: 6 Nov 2018, 2:10 p.m.

Associated with many conditions in OMIM including Spondyloperipheral dysplasia.

Zabel et al. (1996) (PMID: 8723097)  described a 5-bp duplication in exon 51 of the COL2A1 gene resulting in a frameshift in a patient with spondyloperipheral dysplasia. The patient’s phenotypes included Brachydactyly and short toes.

Zankl et al. (2004) (PMID: 15316962) identified heterozygous truncating mutations in the COL2A1 gene in two patients with a phenotype similar to that described by Zabel et al. (1996). Both developed brachydactyly type E like changes of fingers and toes in childhood. In both individuals, heterozygosity for novel, distinct mutations in COL2A1 were found.

Summary - 3 patients with spondyloperipheral dysplasia and phenotypic features such as brachydactyly have been reported, with plausible disease causing mutations in COL2A1.

Created: 6 Nov 2018, 2:10 p.m.

Genomics England clinical team notes - Not primarily limb. On clefting, skeletal dysplasia panels.

Created: 9 Sep 2018, 5:39 p.m.

Comment on list classification: Rated Amber after review by Genomics England clinical team

Created: 9 Sep 2018, 5:33 p.m.

Comment on list classification: Green in the unexplained skeletal dysplasia panel version 1.99.

Created: 9 Apr 2018, 10:37 a.m.

Comment on phenotypes: Spondyloperipheral dysplasia 271700 (short ulna).

Created: 9 Apr 2018, 10:34 a.m.

PMID: 14729840 - a heterozygous missense variant in this gene was identified in a sporadic case of Torrance type of platyspondylic skeletal dysplasia, and a de novo 4bp deletion reported in a case with Kniest-like dysplasia. PMID: 15266623 identified a heterozygous variant in a girl with Czech dysplasia (PMID: 17726487 suggested the patient had spondyloperipheral dysplasia).

Created: 9 Apr 2018, 10:29 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Platyspondylic skeletal dysplasia, Torrance type 151210

Publications

• 14729840
• 15266623