Table 8.

Spondylometaphyseal Dysplasia, Corner Fracture Type: Notable Pathogenic Variants by Gene

Gene 1Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
COL2A1 NM_001844​.5
NP_001835​.3
c.541G>Cp.Gly181ArgGlycine substitutions are implicated in 1/3 of persons w/type II collagenopathies & are more frequent w/more severe phenotypes [Walter et al 2007, Barat-Houari et al 2016, Machol et al 2017].
c.1034G>Ap.Gly345Asp
c.2833G>Ap.Gly945Ser
FN1 NM_212482​.3
NP_997647​.1
c.260G>Tp.Cys87PheImpairs fibronectin secretion [Lee et al 2017]
c.718T>Gp.Tyr240AspImpairs fibronectin secretion [Lee et al 2017]. This tyrosine residue was shown to be important for fibronectin binding to fibroblasts [Sottile et al 1991].
c.2425_2427delp.Thr809delOnly amino acid deletion reported [Lee et al 2017]

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Genes in alphabetic order

From: Spondylometaphyseal Dysplasia, Corner Fracture Type

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