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GENATLAS PHENOTYPE
last update : 27-08-2010
Symbol MADYS1
Location 1q22
Name mandibuloacral dysplasia
Other name(s)
  • mandibuloacral dysplasia with type A lipodystrophy
  • craniomandibular dermatodysostosis
    • Corresponding gene LMNA
    Other symbol(s) MAD, MADA
    Main clinical features
  • post-natal growth retardation onset at age 5, mandibular and clavicular hypoplasia, acro-osteolysis, delayed closure of the cranial suture, joint contractures, mottled cutaneous pigmentation, types A and B pattern of lipodystrophy, marked basal and post-load hyperinsulinemia indicating insulin resistance,
  • partially overlapping familial partial dystrophy of Dunnigan type (AD), but heterozygotes in MAD clinically asymptomatic
    • Genetic determination autosomal recessive
    Function/system disorder dermatology
    osteo-articular
    Type disease
    Gene product
    Name lamin A/C
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   unknown mutation R527H in a segment common to lamins A and C
    Remark(s)
    Genotype/Phenotype correlations
  • mutation A529T associated to absent breast development, osteoporotic changes with multiple fractures, osteolysis of the radius, destructive vertebral changes leading to paraplegia
  • compound heterozygous R527/V440M associated to phenotype without clavicular hypoplasia, metabolic unbalances, and resembling limb-girdle myopathy
  • .R471C homozygous LMNA mutation causes a severe phenotype combining mandibuloacral dysplasia (MAD), progeria, and rigid spine muscular dystrophy