Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 20-08-2015
Symbol MRAGI
Location 15q13.1
Name mental retardation, autistic behavior, and gait instability
Other name(s)
  • Mental retardation, autosomal recessive 38
    • Corresponding gene HERC2
    Other symbol(s) MRT38
    Main clinical features
  • non-syndromic intellectual disability, autism, and gait disturbance, with Angelman-like features
  • global developmental delay affecting motor, speech, adaptive, and social development, with hypotonia and poor suck during infancy, and an unstable gait
  • subtle dysmorphic features included plagiocephaly, prognathism, narrow palate, elongated hallux, sandal gap, and pronation of the feet; most affected individuals had bright blue eye
    • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    Remark(s)
  • p.Pro594Leu variant induces protein aggregation and leads to decreased HERC2 abundance (PMID: 23065719))
  • mutant HERC2 protein has a reduced half-life compared with its wild-type counterpart, which is associated with a significant reduction in HERC2 levels in affected individuals (PMID: 23243086))