Acknowledgments
We would like to thank physicians and nurses of endocrinology units for recruiting patients.
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Research funding: No sponsor was needed to carry out this study.
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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.
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Competing interests: The authors declare that they have no direct or indirect conflict of interest associated with this publication.
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Informed consent: This study was carried according to the French ethic laws. Written informed consent from each patient was obtained.
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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).
References
1. Tarugi, P, Averna, M. Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrum. Adv Clin Chem 2011;54:81–107.10.1016/B978-0-12-387025-4.00004-2Search in Google Scholar
2. Peloso, GM, Nomura, A, Khera, AV, Chaffin, M, Won, HH, Ardissino, D, et al.. Rare protein-truncating variants in APOB, lower low-density lipoprotein cholesterol, and protection against coronary heart disease. Circ Genom Precis Med 2019;12:e002376. https://doi.org/10.1161/circgen.118.002376.Search in Google Scholar
3. Di Filippo, M, Moulin, P, Roy, P, Samson-Bouma, ME, Collardeau-Frachon, S, Chebel-Dumont, S, et al.. Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia. J Hepatol 2014;61:891–902. https://doi.org/10.1016/j.jhep.2014.05.023.Search in Google Scholar PubMed
4. Burnett, JR, Hooper, AJ, Hegele, RA. APOB-related familial hypobetalipoproteinemia. 2021 May 13 [Updated 2021 Sep 9]. In: Adam, MP, Ardinger, HH, Pagon, RA, et al.., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington; 2021.Search in Google Scholar
5. Burnett, JR, Shan, J, Miskie, BA, Whitfield, AJ, Yuan, J, Tran, K, et al.. A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia. J Biol Chem 2003;278:13442–52. https://doi.org/10.1074/jbc.m300235200.Search in Google Scholar PubMed
6. Ayoub, C, Azar, Y, Abou-Khalil, Y, Ghaleb, Y, Elbitar, S, Halaby, G, et al.. Identification of a variant in APOB gene as a major cause of hypobetalipoproteinemia in Lebanese families. Metabolites 2021;11:564. https://doi.org/10.3390/metabo11090564.Search in Google Scholar PubMed PubMed Central
7. Baralle, D, Baralle, M. Splicing in action: assessing disease causing sequence changes. J Med Genet 2005;42:737–48. https://doi.org/10.1136/jmg.2004.029538.Search in Google Scholar PubMed PubMed Central
8. Baux, D, Van Goethem, C, Ardouin, O, Guignard, T, Bergougnoux, A, Koenig, M, et al.. MobiDetails: online DNA variants interpretation. Eur J Hum Genet 2021;29:356–60. https://doi.org/10.1038/s41431-020-00755-z.Search in Google Scholar PubMed PubMed Central
9. Whitfield, AJ, Barrett, PHR, van Bockxmeer, FM, Burnett, JR. Lipid disorders and mutations in the APOB gene. Clin Chem 2004;50:1725–32. https://doi.org/10.1373/clinchem.2004.038026.Search in Google Scholar PubMed
10. Cefalù, AB, Norata, GD, Ghiglioni, DG, Noto, D, Uboldi, P, Garlaschelli, K, et al.. Homozygous familial hypobetalipoproteinemia: two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature. Atherosclerosis 2015;239:209–17. https://doi.org/10.1016/j.atherosclerosis.2015.01.014.Search in Google Scholar PubMed
Supplementary Material
This article contains supplementary material (https://doi.org/10.1515/cclm-2023-0330).
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