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Start arrow Mutacje arrow Zespół Cornelii de Lange

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Zespół Cornelii de Lange Utwórz PDF Drukuj Wyślij znajomemu


(występuje również pod synonimami zespół Brachmana-de Lange, zespół karłowatości amsterdamskiej de Lange, typus degenerativus amstelodamensis, CdLS - ang. Cornelia de Lange Syndrome) - to zespół wad rozwojowych u dzieci o możliwym różnym typie dziedziczenia (autosomalne dominujące, autosomalne recesywne, sprzężone z płcią, mutacje de novo), których wspólną cechą jest współistnienie następujących objawów:

  • znaczny niedorozwój umysłowy 
  • opóźnienie wzrastania i w wyniku tego niski wzrost (jako dorośli osiągają wzrost rzędu 120 - 150 cm) 
  • krótkogłowie 
  • niskie osadzenie uszu 
  • szyja z podłużnym fałdem skórnym przechodząca na klatkę piersiową 
  • zrośnięte brwi (synophrys), które sa bardzo wyraźne, jakby narysowane ołówkiem, zwykle z długimi rzęsami 
  • długa warga górna, kąciki ust skierowane są ku przodowi, podobnie jak nozdrza, podbródek jest mały 
  • wady kończyn - płaskie, małe dłonie i stopy, czasami występuje brak palców 
  • częste wady serca
  • refluks żołądkowo-przełykowy 
  • głuchota

Nazwa pochodzi od nazwiska Cornelii de Lange, która w 1933r. w Amsterdamie opisała po raz pierwszy ten zespół chorobowy.

Podstawy molekularne

Około połowa przypadków zespołu Cornelii de Lange (CdLS1) jest spowodowana mutacją w położonym na chromosomie 5 genie NIPBL, który koduje białko wchodzące w skład kohezyny - kompleksu łączącego siostrzane chromatydy podczas mitozy. Sprzężona z płcią odmiana tej choroby (CdLS2) spowodowana jest mutacją w położonym na chromosomie X genie SMC1L1, kodującym inny składnik tego kompleksu, a CdLS typu 3 - mutacją w położonym na chromosomie 10 genie SMC3, również kodującym składnik tego kompleksu.


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