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GENATLAS PHENOTYPE |
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 |
|
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 |
endocrinology | |
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 |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
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| deletion
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| 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
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| duplication
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| reciprocal duplication
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| deletion
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| larger deletions extending through the 593kb region
| |
Remark(s) |
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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 ; |