title: Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome.
abstract: BACKGROUND
  PTEN gene (MIM 601628) is a tumor suppressor gene implicated in PTEN hamartoma tumor syndromes (PHTS) including Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Proteus-like syndrome. Bannayan-Riley-Ruvalcaba syndrome is considered as the pediatric form of PHTS. More recently, children presenting autism spectrum disorders with macrocephaly (ASD-M) have been reported.
  
  
  METHODS
  We report clinical data from seven patients diagnosed in childhood with a PTEN germline mutation, excluding cases of familial Cowden syndrome.
  
  
  RESULTS
  This study underlines the variability of phenotype associated with PTEN mutations diagnosed at pediatric age. Most of the patients did not fulfill usual criteria of Bannayan-Riley-Ruvalcaba syndrome or ASD-M.
  
  
  CONCLUSIONS
  PTEN testing should be considered in any child presenting with severe macrocephaly (>+4SD) and another feature of PHTS.
authors.affiliation: Unité de génétique clinique, APHM, CHU Timone-Enfants, France. Electronic address: tiffany.busa@ap-hm.fr.
authors.forename: T
authors.initials: T
authors.lastname: Busa
authors.affiliation: Service de neurologie pédiatrique, APHM, CHU Timone-Enfants, France.
authors.forename: M
authors.initials: M
authors.lastname: Milh
authors.affiliation: Service de chirurgie plastique pédiatrique, APHM, CHU Timone-Enfants, France.
authors.forename: N
authors.initials: N
authors.lastname: Degardin
authors.affiliation: Service de neuroradiologie diagnostique et interventionnelle, APHM, CHU Timone, France.
authors.forename: N
authors.initials: N
authors.lastname: Girard
authors.affiliation: Unité de génétique clinique, APHM, CHU Timone-Enfants, France.
authors.forename: S
authors.initials: S
authors.lastname: Sigaudy
authors.affiliation: Laboratoire de génétique moléculaire, Institut Bergonié, France.
authors.forename: M
authors.initials: M
authors.lastname: Longy
authors.affiliation: Laboratoire de génétique moléculaire, Institut Paoli Calmette, France.
authors.forename: S
authors.initials: S
authors.lastname: Olshchwang
authors.affiliation: Laboratoire de génétique moléculaire, Institut Paoli Calmette, France.
authors.forename: H
authors.initials: H
authors.lastname: Sobol
authors.affiliation: Service de neurologie pédiatrique, APHM, CHU Timone-Enfants, France.
authors.forename: B
authors.initials: B
authors.lastname: Chabrol
authors.affiliation: Unité de génétique clinique, APHM, CHU Timone-Enfants, France.
authors.forename: N
authors.initials: N
authors.lastname: Philip
mesh_terms: D000067877:Autism Spectrum Disorder / Q000209:etiology / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D002658:Developmental Disabilities / Q000209:etiology / Q000235:genetics; D005260:Female; D006223:Hamartoma Syndrome, Multiple / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D002538:Intracranial Arteriovenous Malformations / Q000150:complications / Q000235:genetics; D008297:Male; D058627:Megalencephaly / Q000209:etiology / Q000235:genetics; D048631:Micronucleus, Germline; D009154:Mutation / Q000235:genetics; D051059:PTEN Phosphohydrolase / Q000235:genetics*; D010641:Phenotype
chemical_list: D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human
keywords: Arteriovenous malformation; Autism spectrum disorder; Bannayan–Riley–Ruvalcaba syndrome; Developmental delay; Macrocephaly; PTEN