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GENATLAS PHENOTYPE
last update : 08-03-2017
Symbol CLAR2
Location 12q24.31
Name cutis laxa, type 2 A
Other name(s) autosomal recessive cutis laxa type II (Debré type)
Corresponding gene ATP6V0A2
Other symbol(s) ARCL2A
Main clinical features
  • excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological
  • seizures and mental deterioration later in life, whereas the skin phenotype tends to become milder with age
  • associated with a CDG type 2 (CDG-II) pattern, which corresponds to a defect of N-glycosylation at the level of processing in the Golgi apparatus
    • Genetic determination autosomal recessive
    Related entries including cases of wrinkly skin syndrome (WSS, MIM 278250)
    Function/system disorder connective tissue
    connective tissue
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    abnormal splicing   abnormal protein/loss of function resulting in abnormal glycosylation of serum proteins (CDG-II) and cause an impairment of Golgi trafficking in fibroblasts from affected individuals
    Remark(s) mutation causing abnormal elastin biosynthesis ( assembly of elastic fibers was clearly defective in high-density cultures with low levels of insoluble elastin synthesis and the deposition of abnormal globular aggregates of tropoelastin ) (Hucthagowder 2009)
    Genotype/Phenotype correlations
  • high prevalence of congenital eye anomalies in patients diagnosed with ATPV0A2 mutations and ARCL2/WSS (Hucthagowder 2009)