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last update : 27-03-2013
Symbol DEL16P112P
Location 16p11.2
Name chromosome 16p11.2 proximal microdeletion,~600kb, autism associated
Corresponding gene TBX6
Other symbol(s) DUP16P11, AUTS14, OBS11
Main clinical features
  • incomplete penetrance and variable expressivity;
  • autism and macrocephaly are observed with deletion and ADHD and microcephaly are seen in duplication patients (Shinawi 2010);
  • full scale intelligence quotient is 2 SD lower in carriers compared to intrafamilial controls, over 80 percent of individuals exhibit psychiatric disorders including ASD, obesity is present in 50 percent of the carriers by the age of 7 years, seizures are present in 24 percent of carriers, PMID: 23054248
  • the corresponding reciprocal duplication is associated with being underweight, PMID: 21881559
  • three patients with syringomyelia, PMID: 20959866,, some cases of Mullerian aplasia (MRKH), PMID: 21278390
  • childhood apraxia of speech (CAS) in some patients, PMID: 22909774 , PMID: 22909776
  • Genetic determination chromosomal
    genomic disorder
    Prevalence . 1 percent frequency in ASD, 0.1 in psychiatric or language disorder, 0.01 in the general population; 0.7 in morbid obesity cas
    Related entries DEL16P12, DEL16P13
    Function/system disorder psychiatry disorder
    Type susceptibility factor
    Gene product
    Name about 25 genes included, the cellular functions of TBX6 (a transcription factor) and ALDOA (a glycolytic enzyme) make them strong candidate genes
    Gene mutationChromosome rearrangementEffectComments
      deletion   recurrent deletion of 593kb (29.5-30.1 Mb)flanked by a 147-kb segmental duplication with 99,5 percent sequence identity, occuring de novo in most cases, more frequently observed in males
      duplication   reciprocal duplication
      deletion   larger deletions extending through the 593kb region
  • less frequently reported is a smaller 220 kb deletion, adjacent and distal to this 16p11.2 deletion, which has been referred to as the atypical 16p11.2 deletion (220kb;~28.74Mb to ~28.95 Mb) (PMID : 21465664))
  • also a cytogenetically visible variant due to amplification of a pseudogene cassette may be present at 16p11 ;
  • Genotype/Phenotype correlations three boys with overlapping microdeletions within chromosome 16p11.2 who presented with a spectrum of CAKUT-–HSCR anomalies (Sampson 2010) ; reciprocal duplication, sometimes inherited, appears to be a high-penetrance risk factor with a 14.5-fold increased risk of shizophrenia, may also be associated with bipolar disorder and autism (PMID: 19855392)); deletion carriers exhibited hyperphagia and severe insulin resistance disproportionate for the degree of obesity (PMID: 19966786)); the corresponding reciprocal duplication is associated with being underweight PMID: 21881559 ;