Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.

@article{PuigHervs2012MutationsIP,
  title={Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.},
  author={Maria Trinidad Puig-Herv{\'a}s and Samia Ali Temtamy and Mona S. Aglan and Mar{\'i}a de la Luz Valencia and V Martinez-Glez and Mar{\'i}a Juliana Ballesta-Mart{\'i}nez and Vanesa L{\'o}pez-Gonz{\'a}lez and Adel M Ashour and Khalda Said Amr and Veronica Pulido and Encarna Guill{\'e}n-Navarro and P Lapunzina and Jos{\'e} Antonio Caparr{\'o}s-Mart{\'i}n and Victor L. Ruiz-P{\'e}rez},
  journal={Human mutation},
  year={2012},
  volume={33 10},
  pages={1444-9}
}
PLOD2 and FKBP10 are genes mutated in Bruck syndrome (BS), a condition resembling osteogenesis imperfecta (OI), but that is also typically associated with congenital joint contractures. Herein, we sought mutations in six consanguineous BS families and detected changes in either PLOD2 or FKBP10 in all cases. Two probands were found with a homozygous frameshift mutation in the alternative exon 13a of PLOD2, indicating that specific inactivation of the longer protein isoform encoded by this gene… CONTINUE READING

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