ClinVar

In 3 Mexican sibs with OI type XI (OI11; 610968), the offspring of consanguineous parents, Alanay et al. (2010) identified homozygosity for a 1-bp duplication in the FKBP10 gene (831dupC), producing a translational frameshift (Gly278ArgfsTer95) predicted to result in a stop codon 94 amino acids downstream. RT-PCR performed on mRNA obtained from skin fibroblasts showed absence of FKBP65 cDNA, demonstrating that the mutation leads to a functional null allele.

In 2 sibs with a moderately severe form of OI, one with and one without congenital joint contractures (BRKS1; 259450), and in another patient with OI and joint contractures, Kelley et al. (2011) identified homozygosity for the same 1-bp duplication in the FKBP gene. The parents were consanguineous in each case. In 2 other patients with OI and congenital joint contractures, Kelley et al. (2011) identified this mutation in compound heterozygous state with different mutations in the FKBP gene; see 607063.0005 and 607063.0006.

Shaheen et al. (2011) identified homozygosity for the 831dupC mutation in a Saudi patient with fixed flexion contractures, mainly at the hips, knees, and elbows with bilateral talipes deformity. Femur fracture diagnosed at 3 weeks of age. The patient's parents were first cousins.