RGD Reference Report - Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family. - Rat Genome Database

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

Authors: Mark, PR  Torres-Martinez, W  Lachman, RS  Weaver, DD 
Citation: Mark PR, etal., Am J Med Genet A. 2011 Jan;155A(1):174-9. doi: 10.1002/ajmg.a.33762.
RGD ID: 8657353
Pubmed: PMID:21204228   (View Abstract at PubMed)
DOI: DOI:10.1002/ajmg.a.33762   (Journal Full-text)

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 proalpha1(II) chain. This sequence variant was associated with a mild spondyloepiphyseal dysplasia phenotype in three individuals in a three-generation family. On clinical examination at the age of 19 months, the proband had a flat face, bifid uvula, and a protruding abdomen. Radiographically, he had rhizomelia, mesomelia, and ovoid-shaped vertebrae. He also had absent mineralization of the epiphyses, the os pubis, tali, and calcanei. His mother had myopia, mild lumbar lordosis, and mild coxa vara. She had a detached retina repaired at age 24 years. The maternal grandmother had cataracts but has had no kyphoscoliosis or lordosis. All three had disproportionate short stature. None had arthritis or hearing loss. The sequence variant in this family is the only reported Y-position proline substitution in the triple helical domain (Gly-X-Y) of the proalpha1(II) coded by the COL2A1 gene.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
spondyloepiphyseal dysplasia congenita  IAGP 8657353DNA:missense mutation:cds:p.P986L (human)RGD 
spondyloepiphyseal dysplasia congenita  ISOCOL2A1 (Homo sapiens)8657353; 8657353DNA:missense mutation:cds:p.P986L (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Short stature  IAGP 8657353DNA:missense mutation:cds:p.P986LRGD 
Objects Annotated

Genes (Rattus norvegicus)
Col2a1  (collagen type II alpha 1 chain)

Genes (Mus musculus)
Col2a1  (collagen, type II, alpha 1)

Genes (Homo sapiens)
COL2A1  (collagen type II alpha 1 chain)


Additional Information