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. Author manuscript; available in PMC: 2014 Jun 1.
Published in final edited form as: J Bone Miner Res. 2013 Jun;28(6):1501–1508. doi: 10.1002/jbmr.1868

Figure 6. TNFRSF11B Mutation Analysis.

Figure 6

A) Sequencing of our patient’s TNFRFS11B (top) shows a homozygous missense mutation c.130T>C, p.Cys44Arg located within the cysteine-rich domain of OPG (bottom) where loss-of-function defects cause severe JPD.(15) (SP = signal peptide).

B) Sequencing of the parents’ TNFRSF11B shows the same heterozygous mutation.