A new pathogenic missense variant in a consanguineous north-african family responsible for a highly variable aceruloplasminemia phenotype: a case-report

HIGHLIGHTS

• who: Herveu0301 Lobbes from the University of Brescia, Italy have published the research: A New Pathogenic Missense Variant in a Consanguineous North-African Family Responsible for a Highly Variable Aceruloplasminemia Phenotype: A Case-Report, in the Journal: (JOURNAL)

SUMMARY

Hereditary aceruloplasminemia (ACP, OMIM #604290) is a rare autosomal recessive neurodegenerative disorder caused by an absent or depressed ferroxidase function of ceruloplasmin (CP) due to mutations in the CP gene (Miyajima, 2015; Pantopoulos, 2018). In ACP, the impaired ferroxidase function of CP decreases efflux of iron stores both through diminished conversion of ferrous iron . . .

 



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