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Figure 1 | BMC Medical Genetics

Figure 1

From: Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta

Figure 1

Genetic studies. A, Pedigree of the OI family. Black pedigree symbols, affected brothers, homozygous; symbols marked by black dots, unaffected family members that are heterozygous for the mutation; unmarked symbols, unaffected family members that were not available for analysis. B, Genome wide plot of Homozygosity Mapper. Red bars indicate regions with extended ROH at chromosomal regions 11q25 and 17q21.2, shared by the three affected brothers. Homozygosity Score threshold 0.8; HSA, homo sapiens chromosome. C, Sequencing results. Parts of FKBP10 exon 7 are shown. Left side, OI patient II1 homozygous for Arg403X; right side, healthy sister (II2) heterozygous for Arg403X.

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