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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 mutationChromosome rearrangementEffectComments
  duplication   a 3.7 Mb de novo tandem microduplication of 5p13.1-13.2 (rs4703415-rs261752, i.e., chr5:35.62-39.36 Mb)
  duplication   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.
  duplication   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