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Article

A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder.

European journal of medical genetics - 1 Oct 2017

Matthews A M, Tarailo-Graovac M, Price E M, Blydt-Hansen I, Ghani A, Drögemöller B I, Robinson W P, Ross C J, Wasserman W W, Siden H, van Karnebeek C D

Abstract excerpt

Here we report a 12 year old male with an extreme presentation of spastic paraplegia along with autism and dysmorphisms. Whole exome sequencing identified a predicted pathogenic pair of missense variants in SPAST at the same chromosomal location, each with a different alternative allele, while a chromosome microarray identified a 1.73 Mb paternally inherited copy gain of 1q21.1q21.2 resulting in a blended...

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Source

Identifiers

PMID: 28778789
DOI: 10.1016/j.ejmg.2017.07.015

Genes

SPAST

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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