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GENATLAS PHENOTYPE
last update : 02-07-2019
Symbol DEL6PD
Location 6p24-pter
Name chromosome 6p subtelomeric deletion syndrome
Other name(s) 6p25 deletion syndrome, 6p-, monosomy 6pter, subtelomere 6p deletion
Corresponding gene FOXC1 , TFAP2A
Other symbol(s) ECPD,
Main clinical features
  • hypertelorism, broad forehead, flat supraorbital ridges, downslanting palpebral fissures, midface hypoplasia, ear anomalies
  • developmental delay, usually mild
  • ocular dysgenesis (anterior segment of the eye, Axenfeld-Rieger syndrome) and hearing impairment are highly penetrant phenotypes
  • variably associating phenotypes: hydrocephalus, heart defects, epiphyseal dysplasia and other skeletal anomalies, renal malformations
  • phenotypic overlap with 3C syndrome was noted
  • del involving p24 : orofacial clefting
  • brain imaging studies in 12 individuals with deletion and 6 with
    • duplication of 6p25.3 show association with cerebellar and posterior fossa malformations including cerebellar vermis hypoplasia (CVH), megacisterna magna (MCM) and Dandy-Walker malformation (DWM)
    Genetic determination chromosomal
    Prevalence about 40 reported cases
    Related entries AXRI, OFC1 and OFCC1, DWM2, de HAUWERE syndrome : anterior segment eye defects, hypertelorism, psychomotor retardation, hypotonia, hearing loss, hydrocephalus/enlarged ventricles, and femoral head anomalies (PMID: 109120)
    Function/system disorder multisystem/generalized
    eye
    mental retardation
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion   terminal or interstitial deletions, de novo or resulting from unbalanced translocations
      deletion   terminal ~1.3 Mb may be the minimally deleted critical region
    Remark(s) FOXC1 is a candidate gene for ocular dysgenesis, locus for dominant hearing loss is distal to D6S1617 ; FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation (Aldinger,2009)
    Genotype/Phenotype correlations clinical presentation of a variant of Axenfeld-Rieger syndrome is associated with subtelomeric 6p deletion