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Le pédiatre Andreas Rett (1924-1997) est le premier à avoir décrit ce syndrome en 1966.

En octobre 1983, le neuropédiatre suédois Bengt Hagberg (1923-2015) décrit le symptôme chez 35 patients dans les Annales de Neurologie. Il donne le nom d'Andreas Rett à la maladie.

En juin 1992, Adrian Bird découvre la protéine MeCP2.

Son caractère de maladie génétique a été mis en évidence en 1999 par l'équipe du professeur Huda Zoghbi de l'institut de recherche neurologique de Houston.

Définition 

Le syndrome de Rett est une maladie génétique rare se développant chez le très jeune enfant, principalement la fille, et provoquant un handicap mental et des atteintes motrices sévères.

Le syndrome de Rett typique est associé dans près de 95 à 97 % des cas à une mutation dans le gène MECP2 (Méthyl-CpG-binding protein 2), localisé sur le bras long (q) du chromosome X, dans la région Xq28. Il s'agit d'une encéphalopathie neurodéveloppementale très particulière, touchant essentiellement les filles, et étant dans plus de 99 % une mutation de novo.

Dans sa forme typique, elle est caractérisée par une décélération globale du développement psychomoteur, puis d’une perte des acquisitions cognitives et motrices, survenant après une période de développement normal.

Le locus en rouge localise le gène responsable à l'extrémité inférieure de la figure.

Whoops, looks like something went wrong.

1/1 RuntimeException in FileProfilerStorage.php line 143: Unable to create the storage directory (/home/atsartn/public_html/app/cache/dev/profiler/1b/59).

  1. in FileProfilerStorage.php line 143
  2. at FileProfilerStorage->write(object(Profile)) in Profiler.php line 104
  3. at Profiler->saveProfile(object(Profile)) in ProfilerListener.php line 152
  4. at ProfilerListener->onKernelTerminate(object(PostResponseEvent), 'kernel.terminate', object(TraceableEventDispatcher))
  5. at call_user_func(array(object(ProfilerListener), 'onKernelTerminate'), object(PostResponseEvent), 'kernel.terminate', object(TraceableEventDispatcher)) in WrappedListener.php line 61
  6. at WrappedListener->__invoke(object(PostResponseEvent), 'kernel.terminate', object(ContainerAwareEventDispatcher))
  7. at call_user_func(object(WrappedListener), object(PostResponseEvent), 'kernel.terminate', object(ContainerAwareEventDispatcher)) in classes.php line 1888
  8. at EventDispatcher->doDispatch(array(object(WrappedListener), object(WrappedListener)), 'kernel.terminate', object(PostResponseEvent)) in classes.php line 1803
  9. at EventDispatcher->dispatch('kernel.terminate', object(PostResponseEvent)) in TraceableEventDispatcher.php line 133
  10. at TraceableEventDispatcher->dispatch('kernel.terminate', object(PostResponseEvent)) in HttpKernel.php line 77
  11. at HttpKernel->terminate(object(Request), object(Response)) in Kernel.php line 151
  12. at Kernel->terminate(object(Request), object(Response)) in app_dev.php line 30
Unable to create the storage directory (/home/atsartn/public_html/app/cache/dev/profiler/1b/59). (500 Internal Server Error)
Exception detected!

Unable to create the storage directory (/home/atsartn/public_html/app/cache/dev/profiler/1b/59).

500 Internal Server Error - RuntimeException

Stack Trace

  1. in vendor/symfony/symfony/src/Symfony/Component/HttpKernel/Profiler/FileProfilerStorage.php at line 143  -
    1.             // Create directory
    2.             $dir dirname($file);
    3.             if (!is_dir($dir) && false === @mkdir($dir0777true) && !is_dir($dir)) {
    4.                 throw new \RuntimeException(sprintf('Unable to create the storage directory (%s).'$dir));
    5.             }
    6.         }
  2. at FileProfilerStorage ->write (object(Profile))
    in vendor/symfony/symfony/src/Symfony/Component/HttpKernel/Profiler/Profiler.php at line 104  +
  3. at Profiler ->saveProfile (object(Profile))
    in vendor/symfony/symfony/src/Symfony/Component/HttpKernel/EventListener/ProfilerListener.php at line 152  +
  4. at ProfilerListener ->onKernelTerminate (object(PostResponseEvent), 'kernel.terminate', object(TraceableEventDispatcher))
  5. at call_user_func (array(object(ProfilerListener), 'onKernelTerminate'), object(PostResponseEvent), 'kernel.terminate', object(TraceableEventDispatcher))
    in vendor/symfony/symfony/src/Symfony/Component/EventDispatcher/Debug/WrappedListener.php at line 61  +
  6. at WrappedListener ->__invoke (object(PostResponseEvent), 'kernel.terminate', object(ContainerAwareEventDispatcher))
  7. at call_user_func (object(WrappedListener), object(PostResponseEvent), 'kernel.terminate', object(ContainerAwareEventDispatcher))
    in app/cache/dev/classes.php at line 1888  +
  8. at EventDispatcher ->doDispatch (array(object(WrappedListener), object(WrappedListener)), 'kernel.terminate', object(PostResponseEvent))
    in app/cache/dev/classes.php at line 1803  +
  9. at EventDispatcher ->dispatch ('kernel.terminate', object(PostResponseEvent))
    in vendor/symfony/symfony/src/Symfony/Component/EventDispatcher/Debug/TraceableEventDispatcher.php at line 133  +
  10. at TraceableEventDispatcher ->dispatch ('kernel.terminate', object(PostResponseEvent))
    in vendor/symfony/symfony/src/Symfony/Component/HttpKernel/HttpKernel.php at line 77  +
  11. at HttpKernel ->terminate (object(Request), object(Response))
    in vendor/symfony/symfony/src/Symfony/Component/HttpKernel/Kernel.php at line 151  +
  12. at Kernel ->terminate (object(Request), object(Response))
    in app_dev.php at line 30  +

Logs  -

1 error
  1. INFO - Matched route "rett_homepage".
  2. INFO - Populated the TokenStorage with an anonymous Token.
  3. DEBUG - Notified event "kernel.request" to listener "Symfony\Component\HttpKernel\EventListener\DebugHandlersListener::configure".
  4. DEBUG - Notified event "kernel.request" to listener "Symfony\Component\HttpKernel\EventListener\ProfilerListener::onKernelRequest".
  5. DEBUG - Notified event "kernel.request" to listener "Symfony\Component\HttpKernel\EventListener\ValidateRequestListener::onKernelRequest".
  6. DEBUG - Notified event "kernel.request" to listener "Symfony\Bundle\FrameworkBundle\EventListener\SessionListener::onKernelRequest".
  7. DEBUG - Notified event "kernel.request" to listener "Symfony\Component\HttpKernel\EventListener\FragmentListener::onKernelRequest".
  8. DEBUG - Notified event "kernel.request" to listener "Symfony\Component\HttpKernel\EventListener\RouterListener::onKernelRequest".
  9. DEBUG - Notified event "kernel.request" to listener "Symfony\Component\HttpKernel\EventListener\LocaleListener::onKernelRequest".
  10. DEBUG - Notified event "kernel.request" to listener "Symfony\Component\HttpKernel\EventListener\TranslatorListener::onKernelRequest".
  11. DEBUG - Notified event "kernel.request" to listener "Symfony\Component\Security\Http\Firewall::onKernelRequest".
  12. DEBUG - Notified event "kernel.controller" to listener "Symfony\Bundle\FrameworkBundle\DataCollector\RouterDataCollector::onKernelController".
  13. DEBUG - Notified event "kernel.controller" to listener "Symfony\Component\HttpKernel\DataCollector\RequestDataCollector::onKernelController".
  14. DEBUG - Notified event "kernel.controller" to listener "Sensio\Bundle\FrameworkExtraBundle\EventListener\ControllerListener::onKernelController".
  15. DEBUG - Notified event "kernel.controller" to listener "Sensio\Bundle\FrameworkExtraBundle\EventListener\ParamConverterListener::onKernelController".
  16. DEBUG - Notified event "kernel.controller" to listener "Sensio\Bundle\FrameworkExtraBundle\EventListener\HttpCacheListener::onKernelController".
  17. DEBUG - Notified event "kernel.controller" to listener "Sensio\Bundle\FrameworkExtraBundle\EventListener\SecurityListener::onKernelController".
  18. DEBUG - Notified event "kernel.controller" to listener "Sensio\Bundle\FrameworkExtraBundle\EventListener\TemplateListener::onKernelController".
  19. DEBUG - Notified event "kernel.response" to listener "Symfony\Component\HttpKernel\EventListener\ResponseListener::onKernelResponse".
  20. DEBUG - Notified event "kernel.response" to listener "Symfony\Component\Security\Http\RememberMe\ResponseListener::onKernelResponse".
  21. DEBUG - Notified event "kernel.response" to listener "Sensio\Bundle\FrameworkExtraBundle\EventListener\HttpCacheListener::onKernelResponse".
  22. DEBUG - Notified event "kernel.response" to listener "Symfony\Component\HttpKernel\EventListener\ProfilerListener::onKernelResponse".
  23. DEBUG - Notified event "kernel.response" to listener "Symfony\Component\HttpKernel\EventListener\SaveSessionListener::onKernelResponse".
  24. DEBUG - Notified event "kernel.response" to listener "Symfony\Component\HttpKernel\EventListener\StreamedResponseListener::onKernelResponse".
  25. DEBUG - Notified event "kernel.finish_request" to listener "Symfony\Component\HttpKernel\EventListener\LocaleListener::onKernelFinishRequest".
  26. DEBUG - Notified event "kernel.finish_request" to listener "Symfony\Component\HttpKernel\EventListener\TranslatorListener::onKernelFinishRequest".
  27. DEBUG - Notified event "kernel.finish_request" to listener "Symfony\Component\HttpKernel\EventListener\RouterListener::onKernelFinishRequest".
  28. DEBUG - Notified event "kernel.finish_request" to listener "Symfony\Component\Security\Http\Firewall::onKernelFinishRequest".
  29. DEBUG - mkdir(): Disk quota exceeded
  30. CRITICAL - Uncaught PHP Exception RuntimeException: "Unable to create the storage directory (/home/atsartn/public_html/app/cache/dev/profiler/1b/59)." at /home/atsartn/public_html/vendor/symfony/symfony/src/Symfony/Component/HttpKernel/Profiler/FileProfilerStorage.php line 143
  31. DEBUG - Notified event "kernel.request" to listener "Symfony\Component\HttpKernel\EventListener\DebugHandlersListener::configure".
  32. DEBUG - Notified event "kernel.request" to listener "Symfony\Component\HttpKernel\EventListener\ProfilerListener::onKernelRequest".
  33. DEBUG - Notified event "kernel.request" to listener "Symfony\Component\HttpKernel\EventListener\ValidateRequestListener::onKernelRequest".
  34. DEBUG - Notified event "kernel.request" to listener "Symfony\Bundle\FrameworkBundle\EventListener\SessionListener::onKernelRequest".
  35. DEBUG - Notified event "kernel.request" to listener "Symfony\Component\HttpKernel\EventListener\FragmentListener::onKernelRequest".
  36. DEBUG - Notified event "kernel.request" to listener "Symfony\Component\HttpKernel\EventListener\RouterListener::onKernelRequest".
  37. DEBUG - Notified event "kernel.request" to listener "Symfony\Component\HttpKernel\EventListener\LocaleListener::onKernelRequest".
  38. DEBUG - Notified event "kernel.request" to listener "Symfony\Component\HttpKernel\EventListener\TranslatorListener::onKernelRequest".
  39. DEBUG - Notified event "kernel.request" to listener "Symfony\Component\Security\Http\Firewall::onKernelRequest".
  40. DEBUG - Notified event "kernel.controller" to listener "Symfony\Bundle\FrameworkBundle\DataCollector\RouterDataCollector::onKernelController".
  41. DEBUG - Notified event "kernel.controller" to listener "Symfony\Component\HttpKernel\DataCollector\RequestDataCollector::onKernelController".
  42. DEBUG - Notified event "kernel.controller" to listener "Sensio\Bundle\FrameworkExtraBundle\EventListener\ControllerListener::onKernelController".
  43. DEBUG - Notified event "kernel.controller" to listener "Sensio\Bundle\FrameworkExtraBundle\EventListener\ParamConverterListener::onKernelController".
  44. DEBUG - Notified event "kernel.controller" to listener "Sensio\Bundle\FrameworkExtraBundle\EventListener\HttpCacheListener::onKernelController".
  45. DEBUG - Notified event "kernel.controller" to listener "Sensio\Bundle\FrameworkExtraBundle\EventListener\SecurityListener::onKernelController".
  46. DEBUG - Notified event "kernel.controller" to listener "Sensio\Bundle\FrameworkExtraBundle\EventListener\TemplateListener::onKernelController".

Stack Trace (Plain Text)  +