TMEM38B is a novel candidate gene for AR OI. Future studies are needed to explore fully the contribution of this gene to AR OI in other populations.

Bruck syndrome (BS) is an autosomal recessive syndromic form of osteogenesis imperfecta (OI) that is characterized by the additional presence of pterygium formation. We have recently shown that FKBP10 previously reported as a novel autosomal recessive OI gene also defines a novel Bruck syndrome locus (BKS3). In this manuscript, we extend our analysis to describe a mutation previously described in isolated OI patients and show that it results in BS phenotype in a Saudi family. More interestingly, we describe a novel FKBP10 mutation that results in isolated OI as well as BS phenotype in the same family. These results, combined with recently published work, confirm that FKBP10 is a bonafide BS locus and lay the foundation for future research into modifiers that underlie the phenotypic heterogeneity of FKBP10 mutations.

We mistakenly designated the mutation in FKBP10 (NM_ 021939.3) in our two patients as c.1023insGGAGAATT and p.T342GfsX367. The proper designation is c.1016_1023dup and p.Thr342GlyfsX26. This error appears both in the text and in Figure 1E, in which we also showed the two mutations mistakenly described by Alanay et al as p.Gly107_Leu117del (the correct designation is p.Met107_Leu117del) and p.Gly278ArgfsX295 (the correct designation is p.Gly278ArgfsX95). 1 A revised version of Figure 1 with the three mutations properly named is shown below. Additionally, ''protrusion'' now reads ''protrusio,'' and ''inserted'' has been replaced with ''duplicated'' in the legend. The authors regret this oversight and appreciate the opportunity to amend the record.

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