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Article

A Rare Mutation in The APOB Gene Associated with Neurological Manifestations in Familial Hypobetalipoproteinemia

1
Department of Nephrology, Transplantation and Internal Medicine, Medical University of Silesia in Katowice, 40-055 Katowice, Poland
2
Genomed SA, 02-971 Warsaw, Poland
3
Department of Ophthalmology, Medical University of Silesia in Katowice, 40-055 Katowice, Poland
4
Department of Neurology, Department of Neurorehabilitation, Medical University of Silesia in Katowice, 40-055 Katowice, Poland
5
Department of Gastroenterology, II John Paul Pediatric Center, 41-200 Sosnowiec, Poland
6
Department of Gastroenterology and Hepatology, Medical University of Silesia in Katowice, 40-055 Katowice, Poland
*
Author to whom correspondence should be addressed.
These authors contributed to this work equally.
Int. J. Mol. Sci. 2020, 21(4), 1439; https://doi.org/10.3390/ijms21041439
Received: 30 November 2019 / Revised: 10 February 2020 / Accepted: 15 February 2020 / Published: 20 February 2020
(This article belongs to the Collection Molecular Mechanisms of Human Liver Diseases)
Clinical phenotypes of familial hypobetalipoproteinemia (FHBL) are related to a number of defective apolipoprotein B (APOB) alleles. Fatty liver disease is a typical manifestation, but serious neurological symptoms can appear. In this study, genetic analysis of the APOB gene and ophthalmological diagnostics were performed for family members with FHBL. Five relatives with FHBL, including a proband who developed neurological disorders, were examined. A sequencing analysis of the whole coding region of the APOB gene, including flanking intronic regions, was performed using the next-generation sequencing (NGS) method. Electrophysiological ophthalmological examinations were also done. In the proband and his affected relatives, NGS identified the presence of the pathogenic, rare heterozygous splicing variant c.3696+1G>T. Two known heterozygous missense variants—c.2188G>A, p.(Val730Ile) and c.8353A>C, p.(Asn2785His)—in the APOB gene were also detected. In all patients, many ophthalmologic abnormalities in electrophysiological tests were also found. The identified splicing variant c.3696+1G>T can be associated with observed autosomal, dominant FHBL with coexisting neurological symptoms, and both identified missense variants could be excluded as the main cause of observed clinical signs, according to mutation databases and the literature. Electroretinography examination is a sensitive method for the detection of early neuropathy and should therefore be recommended for the care of patients with FHBL. View Full-Text
Keywords: familial hypobetalipoproteinemia; nonalcoholic fatty liver disease; liver steatosis; APOB mutation familial hypobetalipoproteinemia; nonalcoholic fatty liver disease; liver steatosis; APOB mutation
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MDPI and ACS Style

Musialik, J.; Boguszewska-Chachulska, A.; Pojda-Wilczek, D.; Gorzkowska, A.; Szymańczak, R.; Kania, M.; Kujawa-Szewieczek, A.; Wojcieszyn, M.; Hartleb, M.; Więcek, A. A Rare Mutation in The APOB Gene Associated with Neurological Manifestations in Familial Hypobetalipoproteinemia. Int. J. Mol. Sci. 2020, 21, 1439. https://doi.org/10.3390/ijms21041439

AMA Style

Musialik J, Boguszewska-Chachulska A, Pojda-Wilczek D, Gorzkowska A, Szymańczak R, Kania M, Kujawa-Szewieczek A, Wojcieszyn M, Hartleb M, Więcek A. A Rare Mutation in The APOB Gene Associated with Neurological Manifestations in Familial Hypobetalipoproteinemia. International Journal of Molecular Sciences. 2020; 21(4):1439. https://doi.org/10.3390/ijms21041439

Chicago/Turabian Style

Musialik, Joanna, Anna Boguszewska-Chachulska, Dorota Pojda-Wilczek, Agnieszka Gorzkowska, Robert Szymańczak, Magdalena Kania, Agata Kujawa-Szewieczek, Małgorzata Wojcieszyn, Marek Hartleb, and Andrzej Więcek. 2020. "A Rare Mutation in The APOB Gene Associated with Neurological Manifestations in Familial Hypobetalipoproteinemia" International Journal of Molecular Sciences 21, no. 4: 1439. https://doi.org/10.3390/ijms21041439

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