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Fig. 4 | BMC Medical Genetics

Fig. 4

From: Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report

Fig. 4

Mutation analysis. a Direct sequencing shows that the proband is heterozygous for a five nucleotide out-of-frame deletion (NM_001844.4: c.4161_4165del:p.Gln1387His*fs30). b Map of the mutations in the C-propeptide region of COL2A1. Truncating mutations shown above the gene lead to collagenopathies with short stature, while those shown below the gene lead to disorders with normal stature. The arrowheads points to the last amino acid residue of the predicted truncated COL2A1. Green: STLI; purple: early-onset OA; red: our mutation; yellow: SPPD; blue: PLSDT. Numbers correspond to Table 2

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