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Potential Composite Digenic Contribution of and Leading to Atypical Lethal Niemann-Pick Type C with Initial Crohn's Disease-like Presentation: Genotype-Phenotype Correlation Study.

Authors:
Bilal Azab Omar Rabab'h Dunia Aburizeg Hashim Mohammad Zain Dardas Lina Mustafa Ruba A Khasawneh Heyam Awad Ma'mon M Hatmal Eyad Altamimi

Genes (Basel) 2022 May 29;13(6). Epub 2022 May 29.

Pediatric Department, Faculty of Medicine, Jordan University of Science and Technology, Irbid 22110, Jordan.

Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral disease characterized by progressive neurodegeneration with variable involvement of multisystemic abnormalities. Crohn's disease (CD) is an inflammatory bowel disease (IBD) with a multifactorial etiology influenced by variants in . Here, we investigated a patient with plausible multisystemic overlapping manifestations of both NPC and CD. Her initial hospitalization was due to a prolonged fever and non-bloody diarrhea. A few months later, she presented with recurrent skin tags and anal fissures. Later, her neurological and pulmonary systems progressively deteriorated, leading to her death at the age of three and a half years. Differential diagnosis of her disease encompassed a battery of clinical testing and genetic investigations. The patient's clinical diagnosis was inconclusive. Specifically, the histopathological findings were directed towards an IBD disease. Nevertheless, the diagnosis of IBD was not consistent with the patient's subsequent neurological and pulmonary deterioration. Consequently, we utilized a genetic analysis approach to guide the diagnosis of this vague condition. Our phenotype-genotype association attempts led to the identification of candidate disease-causing variants in both and . In this study, we propose a potential composite digenic impact of these two genes as the underlying molecular etiology. This work lays the foundation for future functional and mechanistic studies to unravel the digenic role of and .

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http://dx.doi.org/10.3390/genes13060973DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9223108PMC
May 2022

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Potential Composite Digenic Contribution of and Leading to Atypical Lethal Niemann-Pick Type C with Initial Crohn's Disease-like Presentation: Genotype-Phenotype Correlation Study.

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Bilal Azab Omar Rabab'h Dunia Aburizeg Hashim Mohammad Zain Dardas Lina Mustafa Ruba A Khasawneh Heyam Awad Ma'mon M Hatmal Eyad Altamimi

Genes (Basel) 2022 May 29;13(6). Epub 2022 May 29.

Pediatric Department, Faculty of Medicine, Jordan University of Science and Technology, Irbid 22110, Jordan.

Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral disease characterized by progressive neurodegeneration with variable involvement of multisystemic abnormalities. Crohn's disease (CD) is an inflammatory bowel disease (IBD) with a multifactorial etiology influenced by variants in . Here, we investigated a patient with plausible multisystemic overlapping manifestations of both NPC and CD. Read More

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Plant height (PH) is an important agronomic trait that is closely related to soybean yield and quality. However, it is a complex quantitative trait governed by multiple genes and is influenced by environment. Unraveling the genetic mechanism involved in PH, and developing soybean cultivars with desirable PH is an imperative goal for soybean breeding. Read More

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