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GENATLAS PHENOTYPE
last update : 11-07-2012
Symbol DUP17P11
Location 17p11.2
Name chromosome 17p proximal duplication (Potocki-Lupski syndrome)
Other name(s) Smith-Magenis critical region duplication, partial trisomy of proximal 17p
Corresponding gene RAI1
Other symbol(s) SMCRDUP, PLS, PTLS
Main clinical features
  • developmental delay/ mental retardation and communication and/or autistic spectrum disorders
  • infantile hypotonia, failure to thrive, oral-pharyngeal dysphasia, sleep apnea, structural cardiovascular anomalies, EEG abnormalities, hypermetropia
  • asymmetric smile, wide nasal bridge, strabismus and epicanthal folds
    • Genetic determination chromosomal
    genomic disorder
    Prevalence rare
    Related entries SMS
    Function/system disorder multisystem/generalized
    Type MCA/MR
    Gene product
    Name contiguous gene syndrome, more than 50 genes map to the commonly deleted SMS interval
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      duplication   3.7 Mb duplication reciprocal of the SMS microdeletion in most patients
      duplication   non-recurrent duplications ranging in size from 1.3 to 15.2 Mb, in 37 percent of patients
      supernumerary abnormal chromosome   de novo usually mosaic SMC(17) with a breakpoint within the centromere and the other within a LCR17
    Remark(s) the smallest region of overlap (SRO) for all of the 74 PTLS duplications examined is narrowed to a 125 kb interval containing only RAI1, a gene recently further implicated in autism (Zhang 2010).
    Genotype/Phenotype correlations
  • a 0.285 Mb critical region, including the FLCN gene that may be important for development of renal abnormalities PMID: 22639462
  • Hypoplastic left heart in 2 cases PMID: 21271655