title: Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23.
abstract: BACKGROUND
  Microdeletions of 14q22q23 have been associated with eye abnormalities and pituitary defects. Other phenotypic features in deletion carriers including hearing loss and response to growth hormone therapy are less well recognized. We studied genotype and phenotype of three newly identified children with 14q22q23 deletions, two girls and one boy with bilateral anophthalmia, and compared them with previously published deletion patients and individuals with intragenic defects in genes residing in the region.
  
  
  RESULTS
  The three deletions were de novo and ranged in size between 5.8 and 8.9 Mb. All three children lacked one copy of the OTX2 gene and in one of them the deletion involved also the BMP4 gene. All three patients presented partial conductive hearing loss which tended to improve with age. Analysis of endocrine and growth phenotypes showed undetectable anterior pituitary, growth hormone deficiency and progressive growth retardation in all three patients. Growth hormone therapy led to partial catch-up growth in two of the three patients but just prevented further height loss in the third.
  
  
  CONCLUSIONS
  The pituitary hypoplasia, growth hormone deficiency and growth retardation associated with 14q22q23 microdeletions are very remarkable, and the latter appears to have an atypical response to growth hormone therapy in some of the cases.
authors.affiliation: AP-HP, Service d'Histologie Embryologie et Cytogénétique, Hôpital Antoine Béclère, Clamart, France.|Université Paris-Sud, Faculté de Médecine Paris-Sud, Le Kremlin Bicêtre, France.
authors.forename: Sophie
authors.initials: S
authors.lastname: Brisset
authors.affiliation: Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
authors.forename: Zuzana
authors.initials: Z
authors.lastname: Slamova
authors.affiliation: Department of Pediatrics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
authors.forename: Petra
authors.initials: P
authors.lastname: Dusatkova
authors.affiliation: AP-HP, Service de Biochimie-Génétique, Plateforme de Génétique Constitutionnelle, Hôpital Henri Mondor, Créteil, France.|INSERM U955, Université Paris 12, Créteil, France.
authors.forename: Audrey
authors.initials: A
authors.lastname: Briand-Suleau
authors.affiliation: AP-HP, Service de Pédiatrie, Hôpital Antoine Béclère, Clamart, France.|Université Paris-Sud, Faculté de Médecine Paris-Sud, Le Kremlin Bicêtre, France.
authors.forename: Karen
authors.initials: K
authors.lastname: Milcent
authors.affiliation: AP-HP, Service de Biochimie-Génétique, Plateforme de Génétique Constitutionnelle, Hôpital Henri Mondor, Créteil, France.|INSERM U955, Université Paris 12, Créteil, France.
authors.forename: Corinne
authors.initials: C
authors.lastname: Metay
authors.affiliation: Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
authors.forename: Martina
authors.initials: M
authors.lastname: Simandlova
authors.affiliation: Department of Pediatrics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
authors.forename: Zdenek
authors.initials: Z
authors.lastname: Sumnik
authors.affiliation: AP-HP, Service d'Histologie Embryologie et Cytogénétique, Hôpital Antoine Béclère, Clamart, France.|INSERM U935, Villejuif, France.|Université Paris-Sud, Faculté de Médecine Paris-Sud, Le Kremlin Bicêtre, France.
authors.forename: Lucie
authors.initials: L
authors.lastname: Tosca
authors.affiliation: AP-HP, Service de Biochimie-Génétique, Plateforme de Génétique Constitutionnelle, Hôpital Henri Mondor, Créteil, France.|INSERM U955, Université Paris 12, Créteil, France.
authors.forename: Michel
authors.initials: M
authors.lastname: Goossens
authors.affiliation: AP-HP, Service de Pédiatrie, Hôpital Antoine Béclère, Clamart, France.|Université Paris-Sud, Faculté de Médecine Paris-Sud, Le Kremlin Bicêtre, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Labrune
authors.affiliation: Genetic and Pediatric Ambulance, Benesov, Czech Republic.
authors.forename: Elsa
authors.initials: E
authors.lastname: Zemankova
authors.affiliation: Department of Pediatrics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
authors.forename: Jan
authors.initials: J
authors.lastname: Lebl
authors.affiliation: AP-HP, Service d'Histologie Embryologie et Cytogénétique, Hôpital Antoine Béclère, Clamart, France.|INSERM U935, Villejuif, France.|Université Paris-Sud, Faculté de Médecine Paris-Sud, Le Kremlin Bicêtre, France.
authors.forename: Gerard
authors.initials: G
authors.lastname: Tachdjian
authors.affiliation: Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
authors.forename: Zdenek
authors.initials: Z
authors.lastname: Sedlacek