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GENATLAS PHENOTYPE |
last update : 21-11-2012 |
Symbol | DUP5P13 |
Location | 5p13 |
Name | chromosome 5p13 duplication |
Corresponding gene | NIPBL |
Main clinical features | common features including mental retardation, developmental delay, sleep abnormalities, and craniofacial and limb defects; developmental delay and learning disability, behavioral problems, peculiar facial dysmorphisms including frontal bossing, large or broad forehead, bitemporal narrowing, short or slanted palpebral fissures, short philtrum, high-arched palate, and low-set ears, long fingers, large hands and feet, PMID: 23085304 |
Genetic determination | chromosomal |
Prevalence | 6 patients |
Related entries | DUP5P |
Function/system disorder | mental retardation |
multisystem/generalized | |
Type | MCA/MR |
Gene product |
Name | components of the sister chromatid cohesion apparatus |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
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| duplication
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| a 3.7 Mb de novo tandem microduplication of 5p13.1-13.2 (rs4703415-rs261752, i.e., chr5:35.62-39.36 Mb)
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| duplication
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| four patients with 0.25 to 1.1 Mb duplications that comprised only the NIPBL gene or only the NIPBL gene and its close neighbours.
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| duplication
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| variable sizes, from 0.25 to 13.6 Mb PMID: 23085304
| |
Remark(s) | the systems affected are the same as in CdLS, but clinical manifestations are distinct from CdLS; increased gene dosage of NIPBL appears to be a major, but not the only, player in that relation, PMID: 21211577 |