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GENATLAS PHENOTYPE
last update : 31-03-2010
Symbol RDMP2
Location 1q22
Name restrictive dermopathy, lethal 2
Other name(s) tight skin contracture syndrome lethal
Corresponding gene LMNA
Main clinical features
  • severe intrauterine growth retardation, congenital contractures, severe reduction of elastic fibers resulting in tight and rigid skin with fetal akinesia, tense skin that was easily eroded, prominent superficial veins, small mouth with pinched appearance of the nose, sparse or absent eyebrows and eyelashes, dysplastic clavicles and joint contractures
  • including cases of progeroid syndrome with scleroderma-like skin changes (Madej-Pilarczyk 2009)
    • Genetic determination autosomal recessive
    Function/system disorder congenital malformation
    dermatology
    Type disease
    Gene product
    Name lamin A/C
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown   truncated protein mutation at intron 11 (or deletion of intron 11) in the Ig fold ddomain, producing a truncated and immature precursor of LMNA ending with the CAAX domain
    Remark(s)