Ontology highlight
ABSTRACT:
SUBMITTER: Park JG
PROVIDER: S-EPMC4908193 | biostudies-literature | 2016 Jun
REPOSITORIES: biostudies-literature
Park Jong G JG Tischfield Max A MA Nugent Alicia A AA Cheng Long L Di Gioia Silvio Alessandro SA Chan Wai-Man WM Maconachie Gail G Bosley Thomas M TM Summers C Gail CG Hunter David G DG Robson Caroline D CD Gottlob Irene I Engle Elizabeth C EC
American journal of human genetics 20160512 6
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 hypoplas ...[more]