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GENATLAS PHENOTYPE
last update : 14-11-2012
Symbol DEL2Q37
Location 2q37.3
Name chromosome 2q subtelomeric deletion syndrome
Other name(s)
  • brachydactyly-mental retardation syndrome
  • Albright hereditary osteodystrophy-like syndrome
  • del 2q37 syndrome
    • Corresponding gene GPC1 , GPR35 , STK25 , KIF1A , HDAC4
    Other symbol(s) BDMR, AHO3, 2QDCR
    Main clinical features
  • frontal bossing, depressed nasal bridge, thin, highly arched eyebrows, deep-set eyes, anteverted nares, and thin upper lip
  • AHO-like brachymetaphalangism (55%)
  • mental retardation mild to severe, autism, repetitive, hyperkinetic behaviours (35%), non-febrile seizures (35%), eczema (25%), heart abnormalities (20%), short stature, obesity, stocky build
  • rarely : Wilms tumor and urogenital anomalies, situs abnormalities, holoprosencephaly
    • Genetic determination chromosomal
    Prevalence more than 100 cases reported
    Function/system disorder multisystem/generalized
    mental retardation
    Type MCA/MR
    Gene product
    Name contiguous gene syndrome; HDAC4 is a histone deacetylase that regulates genes important in bone, muscle, neurological, and cardiac development
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion haploinsufficiency mainly de novo cytogenetically visible deletions or subtelomeric screening, size range from 1,5 Mb to >10,5 Mb
      translocation haploinsufficiency unbalanced translocation with associated trisomy
    Remark(s) 2q subtelomeric polymorphism was frequently observed; deletion or mutation of HDAC4 results in reduced expression of RAI1, which causes Smith-Magenis syndrome when haploinsufficient, providing a link to the overlapping findings in these disorders, PMID: 20691407
    Genotype/Phenotype correlations
  • haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems, PMID: 20691407..