S-Space College of Dentistry/School of Dentistry (치과대학/치의학대학원) Dept. of Dentistry (치의학과) Journal Papers (저널논문_치의학과)
Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia
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- Issue Date
- American Journal of Medical Genetics, Part A 152:770-776
- Craniometaphyseal dysplasia is caused by mutations in ANKH (ankylosis, progressive homolog [mouse]) in the majority of cases, and all of the reported mutations are single amino acid changes. Genomic DNA from an affected patient, his biological parents, and a sibling was amplified and ANKH was sequenced. The affected patient had a complex heterozygous mutation in exon 7 (c.936T>C, c.938C>G, c.942-953delTGGTTGACGGAA), predicting p.Try290Gln and p.Trp292-Glu295del. We studied the effect of the predicted mutation on the subcellular distribution of ANKH protein. Immunofluorescent labeling of COS-7 cells transduced with normal or mutant Ank (murine progressive ankylosis), showed that normal Ank localized to both the plasma membrane and cytoplasm, whereas mutant Ank was detected only in the cytoplasmic compartment. We propose that this craniometaphyseal dysplasia mutationcauses a loss of ANKH protein expression and activity in the plasma membrane as a result of aberrant intracellular protein trafficking.
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