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De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations.

Human molecular genetics - 1 Jan 2023

Alecu Julian E, Saffari Afshin, Jordan Catherine, Srivastava Siddharth, Blackstone Craig, Ebrahimi-Fakhari Darius

Abstract excerpt

Pathogenic variants in ATL1 are a known cause of autosomal-dominantly inherited hereditary spastic paraplegia (HSP-ATL1, SPG3A) with a predominantly 'pure' HSP phenotype. Although a relatively large number of patients have been reported, no genotype-phenotype correlations have been established for specific ATL1 variants. Confronted with five children carrying de novo ATL1 variants showing early, complex and...

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Cross-Sectional Studies
DNA Mutational Analysis
GTP-Binding Proteins
Membrane Proteins
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Spastic Paraplegia, Hereditary

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Identifiers

PMID: 35925862
DOI: 10.1093/hmg/ddac182
PMCID: PMC9838092

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