Mouse models of Wolf-Hirschhorn syndrome.

[wolf-hirschhorn syndrome]

Subtelomeric deletion syndromes represent a significant cause of mental retardation and craniofacial disease . However , for most of these syndromes the pathogenic genes have yet to be identified . Currently there is every indication that identification of these genes will be a slow process if we continue to rely strictly upon clinical data . An alternative approach is the use of mouse models to complement the patient studies . Wolf-Hirschhorn syndrome (WHS ), caused by deletions in 4 p 16 .3 , is the first recognized subtelomeric deletion syndrome . As with other syndromes of this class , WHS has not yet been subjected to an intensive , systematic analysis using mouse models . Nonetheless , a significant number of targeted mutations have been introduced into mouse genomic region , 5 B 1 , which is orthologous to 4 p 16 .3 . Included among these mutations are a series of deletions approximating the deletions in some patients . The mouse lines carrying these deletions display a remarkable concordance of phenotypes with the human patient 's characteristics , strongly indicating that the mouse models can be used to phenocopy WHS . In this review , we will catalog the currently existing targeted mutations in mice in the regions orthologous to the WHS critical regions . For each mutation we will discuss the resulting phenotype and its potential relevance to the pathogenesis of the syndrome . Further , we will describe how the phenotypes of some of the mutations suggest new directions for the clinical studies . Finally we will outline approaches for the efficient creation of new mouse models of WHS going forward .

Diseases
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Diseases presenting "craniofacial disease" symptom

wolf-hirschhorn syndrome

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