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Article

WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease.

Clinical genetics - 1 Aug 2016

Covone A E, Fiorillo C, Acquaviva M, Trucco F, Morana G, Ravazzolo R, Minetti C

Abstract excerpt

We have performed whole-exome sequencing in a family trio with a 16-year-old girl suffering of progressive motor neuron disease. There was no family history of the disease and no parental consanguinity. Our exome analysis indicated the proband as a compound heterozygote for two missense variants in the TECPR2 gene according to a recessive mode of inheritance. The TECPR2 gene has been reported as a positive...

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Share to ATPases Associated with Diverse Cellular Activities
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27406698
DOI: 10.1111/cge.12730

Genes

SPG7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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