Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects.

@article{Park2016LossOM,
  title={Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects.},
  author={Jong Gap Park and Max Alexander Tischfield and Alicia Anne Nugent and Long Cheng and Silvio Alessandro Di Gioia and W. Q. Chan and Gail Dorothy Elizabeth Maconachie and Thomas M. Bosley and C. Claire Summers and D. G. N. Hunter and Caroline D Robson and Irene Gottlob and Elizabeth C. Engle},
  journal={American journal of human genetics},
  year={2016},
  volume={98 6},
  pages={
          1220-1227
        }
}
Duane retraction syndrome (DRS) is a congenital eye-movement disorder defined by limited outward gaze and retraction of the eye on attempted inward gaze. Here, we report on three heterozygous loss-of-function MAFB mutations causing DRS and a dominant-negative MAFB mutation causing DRS and deafness. Using genotype-phenotype correlations in humans and Mafb-knockout mice, we propose a threshold model for variable loss of MAFB function. Postmortem studies of DRS have reported abducens nerve… CONTINUE READING
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