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GENATLAS PHENOTYPE
last update : 20-06-2012
Symbol DEL14QP
Location 14q12q22.1
Name chromosome 14q proximal deletion
Other name(s) proximal monosomy 14q
Corresponding gene FOXG1 , ARHGAP5 , AKAP6 , NKX2-1 , PAX9
Main clinical features
  • largely determined by the involvement of FOXG1, NKX2-1 and PAX9; deletions involving FOXG1, including an 1 Mb upstream region, cause a severe phenotype (see 14q12 microdeletion ); deletions involving NKX2-1 (brain-lung-thyroid phenotype) and PAX9 (oligodontia) with a size of up to 10 Mb result in a clinically recognisable phenotype with mostly mild intellectual disability, implicating that these deletions are relatively well tolerated
    • PMID: 22636604,, PMID: 21744488
  • Genetic determination chromosomal
    Related entries DEL14Q12, R14
    Function/system disorder multisystem/generalized
    mental retardation
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion haploinsufficiency de novo del(14) (q11.2-q13) including PAX9
      deletion   variable breakpoints with 4 to 7 Mb in size deletions
      deletion   PMID: 21744488, 2 patients with del 14q12q13.1 and 1 reciprocal duplication
      deletion haploinsufficiency seven partially overlapping deletions ranging from 717 kb to 10 Mb PMID: 22636604
    Remark(s) contiguous gene syndrome with RPGRIP1 and NRL genes as candidate genes for visual impairment, and FOXG1 for brain anomalies and epilepsy ; involvement of FOXG1 appears the main determinant of phenotype severity.
    Genotype/Phenotype correlations mental retardation, bilateral cleft lip/palate, bilateral colobomas of the optic nerves and retina, agenesis of corpus callosum, pes calcaneovarus, reduced esophageal peristalsis and swallowing difficulties, in a patient with a del(14) (q11.2-q13) including PAX9 ; a patient with a t(10;14)(q25.3;q12) with mental retardation, retinis pigmentosa, microcephaly and seizures and no loss of genetic material ;