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Licensed Unlicensed Requires Authentication Published by De Gruyter June 14, 2023

Interest of minigene splicing reporter assay in familial hypobetalipoproteinemia genetic diagnosis: the example of the missense mutation APOB c.1468C>T

  • Zoé Henry EMAIL logo , Alexandre Janin , Séverine Nony , Oriane Marmontel , Bertrand Cariou , Marie Marrec , Cyrielle Caussy , Sybil Charrière , Philippe Moulin , Jennifer Rieusset , Frédéric Perros and Mathilde Di Filippo ORCID logo

Corresponding author: Zoé Henry, Service de Biochimie et Biologie Moléculaire, Laboratoire de Biologie Médicale MultiSites, Hospices Civils de Lyon, Bron, France; Fédération d’endocrinologie, maladies métaboliques, diabète et nutrition, Hôpital Louis Pradel, Hospices Civils de Lyon, Bron, France; and CarMeN Laboratory, INSERM U1060, INRAE U1397, Université Claude Bernard Lyon 1, 69310 Pierre-Bénite, France, E-mail:


We would like to thank physicians and nurses of endocrinology units for recruiting patients.

  1. Research funding: No sponsor was needed to carry out this study.

  2. Author contributions: Clinical assessments: BC, MM, CC. Experiments: conception and design: ZH, AJ, MDF. Performed the experiments: ZH, SN. Analysed the data: ZH, AJ, OM, SC, PM, JR, FP, MDF. Wrote the paper: ZH, AJ, BC, SC, PM, MDF. Approve the version to be published, agree to be accountable for all aspects of the work: all authors.

  3. Competing interests: The authors declare that they have no direct or indirect conflict of interest associated with this publication.

  4. Informed consent: This study was carried according to the French ethic laws. Written informed consent from each patient was obtained.

  5. Ethical approval: The patients were recruited in Lyon (n=2, GENELIP/ASAP study; clinical trial registration number: NCT03939039) or Nantes (n=1, HYPOCHOL study; clinical trial registration number: NCT02354079). The study was carried out according to The Code of Ethics of the World Medical Association (Declaration of Helsinki) and obtained the agreement of the ethical committee of the “Commission Nationale de l’Informatique et des Libertés” (CNIL) (N° 920,434).


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Supplementary Material

This article contains supplementary material (

Received: 2023-03-31
Accepted: 2023-06-02
Published Online: 2023-06-14
Published in Print: 2023-11-27

© 2023 Walter de Gruyter GmbH, Berlin/Boston

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