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

Narjes Armanet1,2, Corinne Metay3, Sophie Brisset1,2

  • 1Service d'Histologie, Embryologie et Cytogénétique, Hôpitaux Universitaires Paris-Sud. Hôpital Antoine Béclère, 157 rue de la Porte de Trivaux, 92141, Clamart, F-92140 France.

Molecular Cytogenetics
|February 12, 2015
PubMed

Insights

This study characterizes two Xp11.22 deletions in a boy, revealing mutations in SHROOM4 and CLCN5 genes. The findings confirm Dent disease and explore SHROOM4

Area of Science:

  • Genetics
  • Molecular Biology
  • Pediatrics

Background:

  • Reports clinical and molecular characterization of two Xp11.22 deletions.
  • Deletions involve SHROOM4 and CLCN5 genes on the same X chromosome.

Purpose of the Study:

  • To characterize Xp11.22 deletions including SHROOM4 and CLCN5 genes.
  • To investigate the genetic basis of observed clinical features.

Main Methods:

  • Clinical and molecular characterization.
  • Standard and high-resolution karyotyping.
  • Array comparative genomic hybridization (Array-CGH).

Main Results:

  • A six-year-old boy presented with hydrocephalus, psychomotor and growth retardation, facial dysmorphism, and renal proximal tubulopathy.
  • Array-CGH identified two consecutive cryptic deletions (148 Kb and 2.6 Mb) in Xp11.22, inherited from the mother.
  • Clinical features included proteinuria, hypercalciuria, hyperaminoaciduria, hypophosphatemia, and hyperuricemia.

Conclusions:

  • Array-CGH identified candidate genes within the deleted region.
  • Disruption and partial loss of CLCN5 confirmed Dent disease diagnosis.
  • The role of SHROOM4 in neuronal development is discussed in context.
Abstract

Keywords:
Array-comparative genomic hybridizationCLCN5DeletionDent diseaseRenal proximal tubulopathySHROOM4Xp11.22

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