The role of molecular approach in the diagnosis of Prader-Willi syndrome: the experience of a Tunisian laboratory

Authors

  • 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 Author
  • 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 Author
  • 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 Author
  • 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 Author
  • 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 Author
  • 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 Author
  • 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 Author
  • 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 Author
  • 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 Author
  • 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 Author
  • 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 Author
  • 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 Author
  • 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 Author
  • 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 Author
  • 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 Author
  • 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 Author

Keywords:

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

Abstract

Prader Willi syndrome (PWS) is a rare genetic disorder that affects an estimated 1 in 10,000 to 30,000 people worldwide. It is a complex multisystemic condition. PWS is a model of genomic imprinting. The underlying genetic disorder is a function loss of 15q11-13 region of paternal origin due either to a microdeletion of paternal origin, a uniparental disomy (UPD) of maternal origin or more rarely to a mutation of the imprint center located near the region 15q11-13. In this study, we discuss the optimal strategy for the genetic diagnosis of PWS by comparing cytogenetic techniques and molecular analysis and their contributions to the various mechanisms of PWS. This molecular genetic test should be proposed in the face of any clinical suspicion of PWS.

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Published

2019-09-30

Issue

No. 15 (2019): July / September 2019

Section

Original Article

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