Identification of a MAFB mutation in a patient with multicentric carpotarsal osteolysis

@inproceedings{LeiaIdentificationOA,
  title={Identification of a MAFB mutation in a patient with multicentric carpotarsal osteolysis},
  author={Zhuang Leia and Adler Sabineb and Aeberli Danielb and Villiger Peter M.b and Trueb Beatab}
}
  • Zhuang Leia, Adler Sabineb, +2 authors Trueb Beatab
Multicentric carpotarsal osteolysis (MCTO) is an autosomal dominant disease of the skeleton characterised by progressive destruction of carpal and tarsal bones. Recently, it has been demonstrated that this disease is caused by heterozygous mutations in the gene for the transcriptional repressor MAFB. We analysed genomic DNA and RNA from leucocytes of a female patient diagnosed with MCTO. We identified the mutation c.161C>T in the genomic sequence and in the expressed messenger RNA for MAFB… CONTINUE READING