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Article

Identification of mutation in GTPBP2 in patients of a family with neurodegeneration accompanied by iron deposition in the brain.

Neurobiology of aging - 1 Feb 2016

Jaberi Elham, Rohani Mohammad, Shahidi Gholam Ali, Nafissi Shahriar, Arefian Ehsan, Soleimani Masoud, Rasooli Paniz, Ahmadieh Hamid, Daftarian Narsis, Carrami Eli M, Klotzle Brandy, Fan Jian-Bing, Turk Casey, Steemers Frank, Elahi Elahe

Abstract excerpt

We aimed to identify the genetic cause of a neurologic disorder accompanied with mental deficiency in a consanguineous family with 3 affected siblings by linkage analysis and exome sequencing. Iron accumulation in the brain of the patients was a notable phenotypic feature. A full-field electroretinography revealed generalized dysfunction of photoreceptors, bipolar cells, and amacrine cells. A splice site mutation...

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Source

Identifiers

PMID: 26675814
DOI: 10.1016/j.neurobiolaging.2015.10.034

Genes

GTPBP2

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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