title: 3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.
abstract: BACKGROUND
  Since the advent of array-CGH, numerous new microdeletional syndromes have been delineated while others remain to be described. Although 3q29 subtelomeric deletion is a well-described syndrome, there is no report on 3q interstitial deletions.
  
  
  METHODS
  We report for the first time seven patients with interstitial deletions at the 3q27.3q28 locus gathered through the Decipher database, and suggest this locus as a new microdeletional syndrome.
  
  
  RESULTS
  The patients shared a recognisable facial dysmorphism and marfanoid habitus, associated with psychosis and mild to severe intellectual disability (ID). Most of the patients had no delay in gross psychomotor acquisition, but had severe impaired communicative and adaptive skills. Two small regions of overlap were defined. The first one, located on the 3q27.3 locus and common to all patients, was associated with psychotic troubles and mood disorders as well as recognisable facial dysmorphism. This region comprised several candidate genes including SST, considered a candidate for the neuropsychiatric findings because of its implication in interneuronal migration and differentiation processes. A familial case with a smaller deletion allowed us to define a second region of overlap at the 3q27.3q28 locus for marfanoid habitus and severe ID. Indeed, the common morphological findings in the first four patients included skeletal features from the marfanoid spectrum: scoliosis (4/4), long and thin habitus with leanness (average Body Mass Index of 15 (18.5<N<25)) (4/4), arachnodactyly (3/4) and pectus excavatum (2/4)). This phenotype could be explained by the deletion of the AHSG gene, which encodes a secreted protein implicated in bone maturation and the TGFb signalling pathway.
  
  
  CONCLUSIONS
  We report on a new microdeletional syndrome that associates with a recognisable facial dysmorphism and marfanoid habitus including scoliosis, neuropsychiatric disorders of the psychotic spectrum and moderate to severe ID.
authors.affiliation: Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU de Dijon, Dijon, France.
authors.forename: Julien
authors.initials: J
authors.lastname: Thevenon
authors.forename: Patrick
authors.initials: P
authors.lastname: Callier
authors.forename: Hélène
authors.initials: H
authors.lastname: Poquet
authors.forename: Iben
authors.initials: I
authors.lastname: Bache
authors.forename: Bjorn
authors.initials: B
authors.lastname: Menten
authors.forename: Valérie
authors.initials: V
authors.lastname: Malan
authors.forename: Maria Luigia
authors.initials: ML
authors.lastname: Cavaliere
authors.forename: Jean-Paul
authors.initials: JP
authors.lastname: Girod
authors.forename: Christel
authors.initials: C
authors.lastname: Thauvin-Robinet
authors.forename: Salima
authors.initials: S
authors.lastname: El Chehadeh
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Pinoit
authors.forename: Frederic
authors.initials: F
authors.lastname: Huet
authors.forename: Bruno
authors.initials: B
authors.lastname: Verges
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Petit
authors.forename: Anne-Laure
authors.initials: AL
authors.lastname: Mosca-Boidron
authors.forename: Nathalie
authors.initials: N
authors.lastname: Marle
authors.forename: Francine
authors.initials: F
authors.lastname: Mugneret
authors.forename: Alice
authors.initials: A
authors.lastname: Masurel-Paulet
authors.forename: Antonio
authors.initials: A
authors.lastname: Novelli
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Tümer
authors.forename: Bart
authors.initials: B
authors.lastname: Loeys
authors.forename: Stanislas
authors.initials: S
authors.lastname: Lyonnet
authors.forename: Laurence
authors.initials: L
authors.lastname: Faivre
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D019964:Mood Disorders / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D013577:Syndrome; D055815:Young Adult
keywords: 3q27.3; Array-CGH; marfanoid habitus; neuropsychiatric troubles