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GENATLAS PHENOTYPE
last update : 15-11-2016
Symbol DURS2
Location 2q31.1
HGNC id 13274
Name Duane retraction syndrome 2
Corresponding gene CHN1
Main clinical features
  • diffuse congenital cranial dysinnervation disorder not limited to the abducens nucleus and cranial nerve 6
  • congenital eye movement disorder, a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in poor adduction with little or no limitation of abduction, with retraction of the globe on attempted adduction and narrowing of the palpebral fissure
  • Type I (DRS-I) is characterized by poor abduction with little or no limitation of adduction; type II (DRS-II) is characterized by poor adduction with little or no limitation of abduction; and type III (DRS-III) is characterized by both poor abduction and poor adduction
    • Genetic determination autosomal dominant
    Function/system disorder eye
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/gain of function  
    Remark(s) . G228S mutation confer gain of function on CHN1, leading to a hyperactivation of downstream signaling pathways (PMID: 22912401))