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Complex genotypes in family with metachromatic leukodystrophy: Effect of trans and cis mutations distribution on the phenotype variability.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 Feb 2024

Ben Issa Abir, Kamoun Fatma, Bouchaala Wafa, Charfi Triki Chahnez, Fakhfakh Faiza

Abstract excerpt

Metachromatic leukodystrophy (MLD) is a severe metabolic disorder caused by the deficient activity of arylsulfatase A due to ARSA gene mutations. According to the age of onset, MLD is classified into three forms: infantile, juvenile, and adult. In our study, we aimed to perform a genetic analysis for two siblings with juvenile MLD for a better characterization of the molecular mechanisms behind the disease. A...

Topics

Adult
Female
Humans
Leukodystrophy, Metachromatic
Mutation
Cerebroside-Sulfatase
Genotype
Phenotype

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37848385
DOI: 10.1002/jdn.10306

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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