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A Large Family with p.Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female Carriers.

Genes - 19 May 2021

Campopiano Rosa, Femiano Cinzia, Chiaravalloti Maria Antonietta, Ferese Rosangela, Centonze Diego, Buttari Fabio, Zampatti Stefania, Fanelli Mirco, Amatori Stefano, D'Alessio Carmelo, Giardina Emiliano, Fornai Francesco, Biagioni Francesca, Storto Marianna, Gambardella Stefano

Abstract excerpt

X-linked adrenoleukodystrophy (X-ALD, OMIM #300100) is the most common peroxisomal disorder clinically characterized by two main phenotypes: adrenomyeloneuropathy (AMN) and the cerebral demyelinating form of X-ALD (cerebral ALD). The disease is caused by defects in the gene for the adenosine triphosphate (ATP)-binding cassette protein, subfamily D (ABCD1) that encodes the peroxisomal transporter of...

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PMID: 34069712
DOI: 10.3390/genes12050775
PMCID: PMC8160645

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