Interest of minigene splicing reporter assay in familial hypobetalipoproteinemia genetic diagnosis: the example of the missense mutation <i>APOB</i> c.1468C>T-Reference-Cited by-同舟云学术

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

Published:2023-06-14 Issue:12 Volume:61 Page:e259-e262
ISSN:1434-6621
Container-title:Clinical Chemistry and Laboratory Medicine (CCLM)
language:en
Short-container-title:

Author:

Henry Zoé¹²³,Janin Alexandre¹⁴,Nony Séverine¹,Marmontel Oriane¹³,Cariou Bertrand⁵,Marrec Marie⁵,Caussy Cyrielle³⁶,Charrière Sybil²³,Moulin Philippe²³,Rieusset Jennifer³,Perros Frédéric³,Di Filippo Mathilde¹³^ORCID

Affiliation:

1. Service de Biochimie et Biologie Moléculaire , Laboratoire de Biologie Médicale MultiSites, Hospices Civils de Lyon , Bron , France

2. Fédération d’endocrinologie, maladies métaboliques, diabète et nutrition, Hôpital Louis Pradel , Hospices Civils de Lyon, Bron , France

3. CarMeN Laboratory , INSERM U1060, INRAE U1397, Université Claude Bernard Lyon 1 , Pierre-Bénite , France

4. CNRS UMR5261, INSERM U1315, Institut NeuroMyoGène, Université Claude Bernard Lyon 1, Université de Lyon , Lyon , France

5. Nantes Université, CHU Nantes, CNRS, INSERM, L’institut du Thorax , Nantes , France

6. Hôpital Lyon Sud, Département Endocrinologie, Diabète et Nutrition, Hospices Civils de Lyon , Pierre-Bénite , France

Publisher

Walter de Gruyter GmbH

Subject

Biochemistry (medical),Clinical Biochemistry,General Medicine

Link

https://www.degruyter.com/document/doi/10.1515/cclm-2023-0330/pdf

Reference10 articles.

1. Tarugi, P, Averna, M. Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrum. Adv Clin Chem 2011;54:81–107.

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.

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.

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.

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.