title: A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation.
abstract: BACKGROUND
  Microdeletions encompassing chromosome bands 2q14.1q14.3 are rare. To date, eight reports of relatively large deletions of this region (∼20 Mb) but only two small deletions (<6 Mb) have been reported. These deletions can cause a variable phenotype depending on the size and location of the deletion. Cognitive disability, facial dysmorphism, and postnatal growth retardation are the most common phenotypic features.
  
  
  METHODS
  We report on a novel 5.8 Mb deletion of 2q14.1q14.3 identified by array comparative genomic hybridization in a fetus with severe intrauterine growth retardation and partial agenesis of the corpus callosum. The deletion contained 24 coding genes including STEAP3, GLI2, and RNU4ATAC and was inherited from the mild affected mother. A sibling developmental delay and similar dysmorphic facial features was found to have inherited the same deletion.
  
  
  CONCLUSIONS
  This case emphasizes the variable expressivity of the 2q14 microdeletion and reinforces the hypothesis that agenesis of corpus callosum, microcephaly, developmental delay, and distinctive craniofacial features may be part of the phenotypic spectrum characterizing the affected patients. We suggest that GLI2 is a dosage-sensitive gene that may be responsible for the agenesis of corpus callosum observed in the proband. Birth Defects Research (Part A) 106:793-797, 2016. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Cytogénétique Médicale, Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, France. cgoumy@chu-clermontferrand.fr.|EA 4677, ERTICa, Université d'Auvergne, Clermont-Ferrand, France. cgoumy@chu-clermontferrand.fr.
authors.forename: Carole
authors.initials: C
authors.lastname: Goumy
authors.affiliation: Cytogénétique Médicale, Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, France.|EA 4677, ERTICa, Université d'Auvergne, Clermont-Ferrand, France.
authors.forename: Mathilde
authors.initials: M
authors.lastname: Gay-Bellile
authors.affiliation: Cytogénétique Médicale, Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, France.|EA 4677, ERTICa, Université d'Auvergne, Clermont-Ferrand, France.
authors.forename: Gaelle
authors.initials: G
authors.lastname: Salaun
authors.affiliation: Cytogénétique Médicale, Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, France.|EA 4677, ERTICa, Université d'Auvergne, Clermont-Ferrand, France.
authors.forename: Stephan
authors.initials: S
authors.lastname: Kemeny
authors.affiliation: Cytogénétique Médicale, Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, France.|EA 4677, ERTICa, Université d'Auvergne, Clermont-Ferrand, France.
authors.forename: Eleonore
authors.initials: E
authors.lastname: Eymard-Pierre
authors.affiliation: Service d'Imagerie Médicale, CHU Clermont-Ferrand, CHU Estaing, France.
authors.forename: Marie
authors.initials: M
authors.lastname: Biard
authors.affiliation: Cytogénétique Médicale, Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, France.|EA 4677, ERTICa, Université d'Auvergne, Clermont-Ferrand, France.
authors.forename: Celine
authors.initials: C
authors.lastname: Pebrel-Richard
authors.affiliation: Service d'Imagerie Médicale, CHU Clermont-Ferrand, CHU Estaing, France.|EA 4681, PEPRADE, Université d'Auvergne, Clermont-Ferrand, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Vanlieferinghen
authors.affiliation: Service de Génétique Médicale, CHU Clermont-Ferrand, CHU Estaing, France.
authors.forename: Christine
authors.initials: C
authors.lastname: Francannet
authors.affiliation: Cytogénétique Médicale, Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, France.|EA 4677, ERTICa, Université d'Auvergne, Clermont-Ferrand, France.
authors.forename: Andrei
authors.initials: A
authors.lastname: Tchirkov
authors.affiliation: EA 4681, PEPRADE, Université d'Auvergne, Clermont-Ferrand, France.|Unité de Médecine Fœtale, CHU Clermont-Ferrand, CHU Estaing, France.
authors.forename: Helene
authors.initials: H
authors.lastname: Laurichesse
authors.affiliation: Service de Pédiatrie, CH Vichy, France.
authors.forename: Charles
authors.initials: C
authors.lastname: Rouzade
authors.affiliation: Cytogénétique Médicale, Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, France.|EA 4677, ERTICa, Université d'Auvergne, Clermont-Ferrand, France.
authors.forename: Laetitia
authors.initials: L
authors.lastname: Gouas
authors.affiliation: Cytogénétique Médicale, Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, France.|EA 4677, ERTICa, Université d'Auvergne, Clermont-Ferrand, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Vago
mesh_terms: D000328:Adult; D061085:Agenesis of Corpus Callosum / Q000235:genetics*; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics*; D006801:Humans; D051741:Kruppel-Like Transcription Factors / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D011247:Pregnancy; D012342:RNA, Small Nuclear / Q000235:genetics*; D000075746:Zinc Finger Protein Gli2
chemical_list: C082593:GLI2 protein, human; D051741:Kruppel-Like Transcription Factors; D009687:Nuclear Proteins; D012342:RNA, Small Nuclear; C000590616:RNU4ATAC RNA, human; D000075746:Zinc Finger Protein Gli2
keywords: 2q14 deletion; RNU4ATAC, GLI2; agenesis of corpus callosum; intrauterine growth retardation