A New Pathogenic Missense Variant in a Consanguineous North-African Family Responsible for a Highly Variable Aceruloplasminemia Phenotype: A Case-Report

A New Pathogenic Missense Variant in a Consanguineous North-African Family Responsible for a Highly Variable Aceruloplasminemia Phenotype: A Case-Report

Aceruloplasminemia is a rare autosomal recessive inherited disorder. Mutations in the ceruloplasmin gene cause depressed ferroxidase activity leading to iron accumulation. The clinical phenotype is highly variable: anemia, retinopathy, diabetes mellitus, psychiatric disorders, and neurological sympt...

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Bibliographic Details
Main Authors: Hervé Lobbes, Quitterie Reynaud, Sabine Mainbourg, Claire Savy-Stortz, Martine Ropert, Edouard Bardou-Jacquet, Stéphane Durupt
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-05-01
Series:Frontiers in Neuroscience
Subjects:
aceruloplasminemia
ferroxidase
iron overload
neurodegenerative disease
genetic variation
Online Access:https://www.frontiersin.org/articles/10.3389/fnins.2022.906360/full

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https://www.frontiersin.org/articles/10.3389/fnins.2022.906360/full

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