%0 Journal Article
%T Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling
%A Atwal
%A Paldeep S.
%A Broderick
%A Daniel
%A Caulfield
%A Thomas R.
%A Helmi
%A Haytham
%A Hines
%A Stephanie L.
%A Macklin
%A Sarah K.
%A Mohammad
%A Ahmed N.
%A Richter Jr.
%A John E.
%A Samreen
%A Ayesha
%A Vadlamudi
%A Charitha
%A VanGerpen
%A Jay A.
%J -
%D 2020
%R https://doi.org/10.1155/2020/3256539
%X Background. The ATP-binding cassette, subfamily D, member 1 (ABCD1) protein is a peroxisomal half-transporter that allows for very long chain fatty acid (VLCFA) degradation. Pathogenic variants of ABCD1 cause VLCFAs to build up in various tissues and bodily fluids, resulting in a disorder called X-linked adrenoleukodystrophy (X-ALD). This disorder is most commonly marked by adrenocortical insufficiency and high VLCFA concentration, and has varying levels of neurological involvement depending on phenotype. For example, the Addison-only form of X-ALD has no neurological impact, while the cerebral form of X-ALD often causes severe sensory loss, motor function impairment, cognitive decline, and death. Methods. A newly characterized and suspected pathogenic variant in ABCD1 was analyzed using our protein informatics platform (PIP). Personalized protein-level molecular studies were completed on genetic testing data, complementing the analysis and clinical study. Results. A case of adult onset adrenomyeloneuropathy (AMN) and a novel ABCD1 variant are presented. The unique ABCD1 protein is discussed, and the proband¡¯s case is compared to existing reports of AMN. Conclusions. Data fusion from multiple sources was combined in a comprehensive approach yielding an enriched assessment of the patient¡¯s disease and prognosis. Molecular modeling was performed on the variant to better characterize its clinical significance and confirm pathogenicity
%U https://www.hindawi.com/journals/crig/2020/3256539/