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GENATLAS PHENOTYPE
last update : 09-10-2017
Symbol MRXSC
Location Xq24
Name X-linked mental retardation, syndromic 15 (Cabezas type)
Other name(s) Cabezas syndrome
Corresponding gene CUL4B
Other symbol(s) MRXS15
Main clinical features
  • moderate short stature, prominent lower lip, small testes, muscle wasting in lower legs, kyphosis, joint hyperextensibility, pes cavus, and abnormalities of the toes, abnormal gait, tremor, and decreased fine motor coordination, relative macrocephaly, central obesity, unprovoked aggressive outbursts, impaired speech and decreased attention span, severe mental retardation (QI 30 to 50)
  • minor facial anomalies, short stature, delayed puberty, hypogonadism, relative macrocephaly, gait ataxia, and pes cavus (Isidor 2010)
  • intellectual disability, short stature, hypogonadism, and gait abnormalities
  • Genetic determination sex linked
    Function/system disorder neurology
    mental retardation
    Type disease
    Gene product
    Name cullin 4B
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    Remark(s) . patient-derived cells exhibit sensitivity to camptothecin (CPT), impaired CPT-induced topoisomerase I (TOP1) degradation and ubiquitination (Kerzendorfer 2010)