Le rôle de l'approche moléculaire dans le diagnostic du syndrome de Prader-Willi : l'expérience d'un laboratoire tunisien

Auteur/ices

  • Y Halleb (1) Department of Cytogenetics, Molecular Genetics and Reproductive Biology, UH Farhat HACHED, Sousse, Tunisia ; (2) Department of neonatology, UH Farhat HACHED, Sousse, Tunisia ; (3) Department of neonatology, UH Fattouma Bourguiba, Monastir, Tunisia ; (4) Department of pediatrics, UH Farhat HACHED, Sousse, Tunisia ; (5) Department of pediatrics, UH Ibn EL JAZZAR, Kairouan, Tunisia ; (6) Department of pediatrics, UH Hedi CHAKER, Sfax, Tunisia Auteur·e
  • S Nouri (1) Department of Cytogenetics, Molecular Genetics and Reproductive Biology, UH Farhat HACHED, Sousse, Tunisia ; (2) Department of neonatology, UH Farhat HACHED, Sousse, Tunisia ; (3) Department of neonatology, UH Fattouma Bourguiba, Monastir, Tunisia ; (4) Department of pediatrics, UH Farhat HACHED, Sousse, Tunisia ; (5) Department of pediatrics, UH Ibn EL JAZZAR, Kairouan, Tunisia ; (6) Department of pediatrics, UH Hedi CHAKER, Sfax, Tunisia Auteur·e
  • A Touati (1) Department of Cytogenetics, Molecular Genetics and Reproductive Biology, UH Farhat HACHED, Sousse, Tunisia ; (2) Department of neonatology, UH Farhat HACHED, Sousse, Tunisia ; (3) Department of neonatology, UH Fattouma Bourguiba, Monastir, Tunisia ; (4) Department of pediatrics, UH Farhat HACHED, Sousse, Tunisia ; (5) Department of pediatrics, UH Ibn EL JAZZAR, Kairouan, Tunisia ; (6) Department of pediatrics, UH Hedi CHAKER, Sfax, Tunisia Auteur·e
  • J Mathlouthi (1) Department of Cytogenetics, Molecular Genetics and Reproductive Biology, UH Farhat HACHED, Sousse, Tunisia ; (2) Department of neonatology, UH Farhat HACHED, Sousse, Tunisia ; (3) Department of neonatology, UH Fattouma Bourguiba, Monastir, Tunisia ; (4) Department of pediatrics, UH Farhat HACHED, Sousse, Tunisia ; (5) Department of pediatrics, UH Ibn EL JAZZAR, Kairouan, Tunisia ; (6) Department of pediatrics, UH Hedi CHAKER, Sfax, Tunisia Auteur·e
  • M Barka (1) Department of Cytogenetics, Molecular Genetics and Reproductive Biology, UH Farhat HACHED, Sousse, Tunisia ; (2) Department of neonatology, UH Farhat HACHED, Sousse, Tunisia ; (3) Department of neonatology, UH Fattouma Bourguiba, Monastir, Tunisia ; (4) Department of pediatrics, UH Farhat HACHED, Sousse, Tunisia ; (5) Department of pediatrics, UH Ibn EL JAZZAR, Kairouan, Tunisia ; (6) Department of pediatrics, UH Hedi CHAKER, Sfax, Tunisia Auteur·e
  • Fz Chioukh (1) Department of Cytogenetics, Molecular Genetics and Reproductive Biology, UH Farhat HACHED, Sousse, Tunisia ; (2) Department of neonatology, UH Farhat HACHED, Sousse, Tunisia ; (3) Department of neonatology, UH Fattouma Bourguiba, Monastir, Tunisia ; (4) Department of pediatrics, UH Farhat HACHED, Sousse, Tunisia ; (5) Department of pediatrics, UH Ibn EL JAZZAR, Kairouan, Tunisia ; (6) Department of pediatrics, UH Hedi CHAKER, Sfax, Tunisia Auteur·e
  • J Bouguila (1) Department of Cytogenetics, Molecular Genetics and Reproductive Biology, UH Farhat HACHED, Sousse, Tunisia ; (2) Department of neonatology, UH Farhat HACHED, Sousse, Tunisia ; (3) Department of neonatology, UH Fattouma Bourguiba, Monastir, Tunisia ; (4) Department of pediatrics, UH Farhat HACHED, Sousse, Tunisia ; (5) Department of pediatrics, UH Ibn EL JAZZAR, Kairouan, Tunisia ; (6) Department of pediatrics, UH Hedi CHAKER, Sfax, Tunisia Auteur·e
  • N Soyah (1) Department of Cytogenetics, Molecular Genetics and Reproductive Biology, UH Farhat HACHED, Sousse, Tunisia ; (2) Department of neonatology, UH Farhat HACHED, Sousse, Tunisia ; (3) Department of neonatology, UH Fattouma Bourguiba, Monastir, Tunisia ; (4) Department of pediatrics, UH Farhat HACHED, Sousse, Tunisia ; (5) Department of pediatrics, UH Ibn EL JAZZAR, Kairouan, Tunisia ; (6) Department of pediatrics, UH Hedi CHAKER, Sfax, Tunisia Auteur·e
  • A Sboui (1) Department of Cytogenetics, Molecular Genetics and Reproductive Biology, UH Farhat HACHED, Sousse, Tunisia ; (2) Department of neonatology, UH Farhat HACHED, Sousse, Tunisia ; (3) Department of neonatology, UH Fattouma Bourguiba, Monastir, Tunisia ; (4) Department of pediatrics, UH Farhat HACHED, Sousse, Tunisia ; (5) Department of pediatrics, UH Ibn EL JAZZAR, Kairouan, Tunisia ; (6) Department of pediatrics, UH Hedi CHAKER, Sfax, Tunisia Auteur·e
  • S Kmiha (1) Department of Cytogenetics, Molecular Genetics and Reproductive Biology, UH Farhat HACHED, Sousse, Tunisia ; (2) Department of neonatology, UH Farhat HACHED, Sousse, Tunisia ; (3) Department of neonatology, UH Fattouma Bourguiba, Monastir, Tunisia ; (4) Department of pediatrics, UH Farhat HACHED, Sousse, Tunisia ; (5) Department of pediatrics, UH Ibn EL JAZZAR, Kairouan, Tunisia ; (6) Department of pediatrics, UH Hedi CHAKER, Sfax, Tunisia Auteur·e
  • S Mougou (1) Department of Cytogenetics, Molecular Genetics and Reproductive Biology, UH Farhat HACHED, Sousse, Tunisia ; (2) Department of neonatology, UH Farhat HACHED, Sousse, Tunisia ; (3) Department of neonatology, UH Fattouma Bourguiba, Monastir, Tunisia ; (4) Department of pediatrics, UH Farhat HACHED, Sousse, Tunisia ; (5) Department of pediatrics, UH Ibn EL JAZZAR, Kairouan, Tunisia ; (6) Department of pediatrics, UH Hedi CHAKER, Sfax, Tunisia Auteur·e
  • M Gribaa (1) Department of Cytogenetics, Molecular Genetics and Reproductive Biology, UH Farhat HACHED, Sousse, Tunisia ; (2) Department of neonatology, UH Farhat HACHED, Sousse, Tunisia ; (3) Department of neonatology, UH Fattouma Bourguiba, Monastir, Tunisia ; (4) Department of pediatrics, UH Farhat HACHED, Sousse, Tunisia ; (5) Department of pediatrics, UH Ibn EL JAZZAR, Kairouan, Tunisia ; (6) Department of pediatrics, UH Hedi CHAKER, Sfax, Tunisia Auteur·e
  • K Monastiri (1) Department of Cytogenetics, Molecular Genetics and Reproductive Biology, UH Farhat HACHED, Sousse, Tunisia ; (2) Department of neonatology, UH Farhat HACHED, Sousse, Tunisia ; (3) Department of neonatology, UH Fattouma Bourguiba, Monastir, Tunisia ; (4) Department of pediatrics, UH Farhat HACHED, Sousse, Tunisia ; (5) Department of pediatrics, UH Ibn EL JAZZAR, Kairouan, Tunisia ; (6) Department of pediatrics, UH Hedi CHAKER, Sfax, Tunisia Auteur·e
  • N Mahdhaoui (1) Department of Cytogenetics, Molecular Genetics and Reproductive Biology, UH Farhat HACHED, Sousse, Tunisia ; (2) Department of neonatology, UH Farhat HACHED, Sousse, Tunisia ; (3) Department of neonatology, UH Fattouma Bourguiba, Monastir, Tunisia ; (4) Department of pediatrics, UH Farhat HACHED, Sousse, Tunisia ; (5) Department of pediatrics, UH Ibn EL JAZZAR, Kairouan, Tunisia ; (6) Department of pediatrics, UH Hedi CHAKER, Sfax, Tunisia Auteur·e
  • A Saad (1) Department of Cytogenetics, Molecular Genetics and Reproductive Biology, UH Farhat HACHED, Sousse, Tunisia ; (2) Department of neonatology, UH Farhat HACHED, Sousse, Tunisia ; (3) Department of neonatology, UH Fattouma Bourguiba, Monastir, Tunisia ; (4) Department of pediatrics, UH Farhat HACHED, Sousse, Tunisia ; (5) Department of pediatrics, UH Ibn EL JAZZAR, Kairouan, Tunisia ; (6) Department of pediatrics, UH Hedi CHAKER, Sfax, Tunisia Auteur·e
  • D H'mida (1) Department of Cytogenetics, Molecular Genetics and Reproductive Biology, UH Farhat HACHED, Sousse, Tunisia ; (2) Department of neonatology, UH Farhat HACHED, Sousse, Tunisia ; (3) Department of neonatology, UH Fattouma Bourguiba, Monastir, Tunisia ; (4) Department of pediatrics, UH Farhat HACHED, Sousse, Tunisia ; (5) Department of pediatrics, UH Ibn EL JAZZAR, Kairouan, Tunisia ; (6) Department of pediatrics, UH Hedi CHAKER, Sfax, Tunisia Auteur·e

Mots-clés :

syndrome de Prader Willi, anomalie d'empreinte, disomie maternelle, délétion paternelle, analyse moléculaire

Résumé

Le syndrome de Prader Willi (PWS) est une maladie génétique rare qui touche environ 1 personne sur 10 000 à 30 000 dans le monde. C'est une condition multisystémique complexe. PWS est un modèle d'empreinte génomique. Cette anomalie d'empreinte est une perte de fonction de la région 15q11-13 d'origine paternelle due à une microdélétion d'origine paternelle, une disomie uniparentale (UPD) d'origine maternelle ou plus rarement à une mutation du centre d'empreinte située à proximité de la région 15q11-13. Dans cette étude, nous discutons la stratégie optimale pour le diagnostic génétique de PWS au moyen de techniques cytogénétiques et d'analyse moléculaire et de leurs contributions aux divers mécanismes de PWS. Ce test génétique moléculaire devrait être proposé face à toute suspicion clinique de SPW.

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Publiée

2019-09-30

Numéro

No 15 (2019): Juillet / Septembre 2019

Rubrique

Mémoire original

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