Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease

Molecular Cytogenetics

Lucie Tosca⁷  Philippe Labrune¹  Gérard Tachdjian⁷  Michel Goossens⁸  Federico Di Rocco⁵  François M Petit⁶  Dominique Pineau⁴  Georges Deschenes²  Sophie Brisset⁷  Corinne Metay³  Narjes Armanet⁷ 

[1] Service de Pédiatrie, Hôpitaux Universitaires Paris-Sud. Hôpital Antoine Béclère, Clamart F-92140, France;Service de Néphrologie pédiatrique, Hôpital Robert Debré, Paris F-75935, France;Plateforme de Génomique IMRB 955, Hôpital Henri Mondor, Créteil F-94010, France;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;Service de Neurochirurgie pédiatrique, Hôpital Necker Enfants Malades, Clamart F-75015, France;Laboratoire de Génétique Moléculaire, Hôpitaux Universitaires Paris-Sud. Hôpital Antoine Béclère, Clamart F-92140, France;Université Paris-Sud, Le Kremlin-Bicêtre F-94276, France;Université Paris Est, Créteil F-94010, France

关键词: CLCN5;    SHROOM4;    Dent disease;    Renal proximal tubulopathy;    Array-comparative genomic hybridization;    Xp11.22;    Deletion;   

Others  :  1132190
DOI  :  10.1186/s13039-015-0107-x

 received in 2014-10-20, accepted in 2015-01-08,  发布年份 2015

【 摘 要 】

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.

【 授权许可】

   
2015 Armanet et al.; licensee BioMed Central.

【 图 表 】

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