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GENATLAS PHENOTYPE
last update : 9/06/2008
Symbol SRS7
Location 7q32 or 7p11.2-p13
Name Silver-Russell syndrome
Corresponding gene GRB10 , MEST , COPG2 , CPA4
Other symbol(s) RSS
Main clinical features
  • severe intrauterine and postnatal growth retardation (<3rd percentile) with preservation of OFC, feeding difficulties
  • dysmorphic facial features : triangular facies, pointed chin
  • body asymmetry with hemihypotrophy, and clinodactyly Vth, urogenital dysmorphism : hypospadias, posterior urethral valves
  • delayed bone age, developmental delay
    • Genetic determination chromosomal
    epigenetic
    Related entries see also SRSX, SRS11, SRS17 and DEL15QD
    Function/system disorder multisystem/generalized
    Type MCA/MR
    Gene product
    Name GRB10 shows imprinting differences depending on isoforms and tissues
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      duplication   duplication 7p11.2p13 (DUP7P) including GRB10
      uniparental disomy   maternal uniparental disomy 7 (UPD7M), two separate candidate regions 7p11.2p13 and 7q31qter could be involved through genomic imprinting, low-level trisomy 7 may coexist
    missense     P95S substitution in two SRS patients in the maternal allele of GRB10
    Remark(s) 10p100 of SRS patients have mUPD for chromosome 7
    Genotype/Phenotype correlations milder phenotype than SRS due to 11p15 epimutation