title: Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease.
abstract: BACKGROUND
  Here we report the clinical and molecular characterization of two Xp11.22 deletions including SHROOM4 and CLCN5 genes. These deletions appeared in the same X chromosome of the same patient.
  
  
  RESULTS
  The patient is a six-year-old boy who presented hydrocephalus, severe psychomotor and growth retardation, facial dysmorphism and renal proximal tubulopathy associated with low-molecular-weight proteinuria, hypercalciuria, hyperaminoaciduria, hypophosphatemia and hyperuricemia. Standard and high resolution karyotypes showed a 46,XY formula. Array-CGH revealed two consecutive cryptic deletions in the region Xp11.22, measuring respectively 148 Kb and 2.6 Mb. The two deletions were inherited from the asymptomatic mother.
  
  
  CONCLUSIONS
  Array-CGH allowed us to determine candidate genes in the deleted region. The disruption and partial loss of CLCN5 confirmed the diagnostic of Dent disease for this patient. Moreover, the previously described involvement of SHROOM4 in neuronal development is discussed.
authors: Service d'Histologie, Embryologie et Cytogénétique, Hôpitaux Universitaires Paris-Sud. Hôpital Antoine Béclère, 157 rue de la Porte de Trivaux, 92141, Clamart, F-92140 France.|Université Paris-Sud, Le Kremlin-Bicêtre, F-94276 France.
authors: Narjes
authors: N
authors: Armanet
authors: Plateforme de Génomique IMRB 955, Hôpital Henri Mondor, Créteil, F-94010 France.
authors: Corinne
authors: C
authors: Metay
authors: Service d'Histologie, Embryologie et Cytogénétique, Hôpitaux Universitaires Paris-Sud. Hôpital Antoine Béclère, 157 rue de la Porte de Trivaux, 92141, Clamart, F-92140 France.|Université Paris-Sud, Le Kremlin-Bicêtre, F-94276 France.
authors: Sophie
authors: S
authors: Brisset
authors: Service de Néphrologie pédiatrique, Hôpital Robert Debré, Paris, F-75935 France.
authors: Georges
authors: G
authors: Deschenes
authors: Service d'Histologie, Embryologie et Cytogénétique, Hôpitaux Universitaires Paris-Sud. Hôpital Antoine Béclère, 157 rue de la Porte de Trivaux, 92141, Clamart, F-92140 France.
authors: Dominique
authors: D
authors: Pineau
authors: Laboratoire de Génétique Moléculaire, Hôpitaux Universitaires Paris-Sud. Hôpital Antoine Béclère, Clamart, F-92140 France.
authors: François M
authors: FM
authors: Petit
authors: Service de Neurochirurgie pédiatrique, Hôpital Necker Enfants Malades, Clamart, F-75015 France.
authors: Federico
authors: F
authors: Di Rocco
authors: Plateforme de Génomique IMRB 955, Hôpital Henri Mondor, Créteil, F-94010 France.|Université Paris Est, Créteil, F-94010 France.
authors: Michel
authors: M
authors: Goossens
authors: Service d'Histologie, Embryologie et Cytogénétique, Hôpitaux Universitaires Paris-Sud. Hôpital Antoine Béclère, 157 rue de la Porte de Trivaux, 92141, Clamart, F-92140 France.|Université Paris-Sud, Le Kremlin-Bicêtre, F-94276 France.
authors: Gérard
authors: G
authors: Tachdjian
authors: Université Paris-Sud, Le Kremlin-Bicêtre, F-94276 France.|Service de Pédiatrie, Hôpitaux Universitaires Paris-Sud. Hôpital Antoine Béclère, Clamart, F-92140 France.
authors: Philippe
authors: P
authors: Labrune
authors: Service d'Histologie, Embryologie et Cytogénétique, Hôpitaux Universitaires Paris-Sud. Hôpital Antoine Béclère, 157 rue de la Porte de Trivaux, 92141, Clamart, F-92140 France.|Université Paris-Sud, Le Kremlin-Bicêtre, F-94276 France.
authors: Lucie
authors: L
authors: Tosca
keywords: Array-comparative genomic hybridization; CLCN5; Deletion; Dent disease; Renal proximal tubulopathy; SHROOM4; Xp11.22