Home Page |
References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 30-05-2012 |
Symbol | DEL17Q21 |
Location | 17q21.31 |
Name | chromosome 17q21.31 microdeletion syndrome |
Other name(s) | KANSL1-Related Intellectual Disability Syndrome; monosomy 17q21 |
Corresponding gene | MAPT , CRHR1 , KANSL1 |
Main clinical features |
|
Genetic determination | chromosomal |
genomic disorder | |
Prevalence | 1 in 16 000 births |
Function/system disorder | multisystem/generalized |
mental retardation | |
Type | MCA/MR |
Gene product |
Name | the KANSL1 protein is an evolutionarily conserved regulator of the chromatin modifier KAT8, which influences gene expression through histone H4 lysine 16 (H4K16) acetylation |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
|  
| deletion
| haploinsufficiency
| microdeletion with a critical region of 424kb
| various types
|  
| haploinsufficiency
| in the KANSL1 gene PMID: 22544367, PMID: 22544363
| |
Remark(s) | several low-copy repeats, recently associated with a 900 kb inversion present in up to 20 percent of European subjects, are present in 17q21.31; this inversion is present in all examined parent originating the deletion ; the deleted region contains the MAPT gene, implicated in late onset neurodegenerative disorders, and other genes; haploinsufficiency of KANSL1 is sufficient to cause the classical 17q21.31 microdeletion syndrome phenotype PMID: 22544367,, PMID: 22544363 ; |
Genotype/Phenotype correlations | patients carrying larger or non-overlapping deletions in this region have also been described with different manifestations |