A Rare Mutation in The APOB Gene Associated with Neurological Manifestations in Familial Hypobetalipoproteinemia
Abstract
:1. Introduction
Family Description
2. Results
2.1. Genetic Testing
2.2. Neurological Examination
2.3. Ophthalmological Examination
3. Discussion
4. Materials and Methods
4.1. Genetic Testing
4.2. The Neurological Conditions
4.3. The Ophthalmological Examination
5. Conclusions
Author Contributions
Funding
Conflicts of Interest
Abbreviations
FHBL | Familial hypobetalipoproteinemia |
APOB | Apolipoprotein B |
NAFLD | Nonalcoholic fatty liver disease |
ABL | Abetalipoproteinemia |
NASH | Nonalcoholic steatohepatitis |
MR | Magnetic resonance |
CT | Computed tomography |
TC | Total cholesterol |
LDL | Low-density lipoprotein |
TG | Triglycerides |
DOB | Date of birth |
NGS | Next-generation sequencing |
HGVS | Human Genome Variation Society |
OCT | Optical coherence tomography |
PERG | Pattern electroretinography |
PVEP | Pattern visual evoked potentials |
ACMG | American College of Medical Genetics and Genomics |
ERG | Electroretinography |
LDLR | Low-density lipoprotein receptor |
HGMD | Human Gene Mutation Database |
UPDRS | Unified Parkinson’s Disease Rating Scale |
BCVA | Best-corrected visual acuity |
FERG | Flash full-field electroretinography |
ISCEV | International Society for Clinical Electrophysiology of Vision |
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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
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 StyleMusialik, 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
APA StyleMusialik, J., Boguszewska-Chachulska, A., Pojda-Wilczek, D., Gorzkowska, A., Szymańczak, R., Kania, M., Kujawa-Szewieczek, A., Wojcieszyn, M., Hartleb, M., & Więcek, A. (2020). A Rare Mutation in The APOB Gene Associated with Neurological Manifestations in Familial Hypobetalipoproteinemia. International Journal of Molecular Sciences, 21(4), 1439. https://doi.org/10.3390/ijms21041439