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Article

A neurodevelopmental disorder with a nonsense mutation in the Ox-2 antigen domain of the amyloid precursor protein (APP) gene.

Nucleosides, nucleotides & nucleic acids - 4 May 2017

Nguyen Khue Vu, Leydiker Karen, Wang Raymond, Abdenur Jose, Nyhan William L

Abstract excerpt

We report a patient, an infant with a neurodevelopmental disorder manifesting intractable complex partial epilepsy, bull's eye maculopathy, microcephaly, bilateral cataracts, truncal hypotonia, and spasticity of all four extremities. Sequencing of genomic DNA revealed mutations in (a) exon 8 (Ox-2 antigen domain) of the amyloid precursor protein (APP) gene: c.1075C>T, p.Arg359* (b) exon 8 of the senataxin (SETX)...

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Source

Identifiers

PMID: 28102781
DOI: 10.1080/15257770.2016.1267361

Genes

APP
CLN8
SETX

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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