[Neuroacanthocytosis diagnosis with new generation whole exome sequencing].

[Neuroacanthocytosis diagnosis with new generation whole exome sequencing].
Orv Hetil. 2017 Oct;158(42):1681-1684
Authors: Hadzsiev K, Szőts M, Fekete A, Balikó L, Boycott K, Nagy F, Melegh B
Abstract
In a patient with marked symptoms of Huntington disease after the huntingtin testing, which gave normal result, a whole exome sequencing (WES) has been performed based on an international collaboration. A homozygous G>A nucleotid change in the exon 34 of the VPS13A gene has been detected with WES, a mutation resulting in a premature stop codon at the position 1301. This change is a known pathogenic mutation. The aim of this article is to draw attention on the importance of the WES in the diagnosis of rare neurological diseases without any specific symptoms. Orv Hetil. 2017; 158(42): 1681-1684.
PMID: 29037056 [PubMed - in process]

Source: Orvosi Hetilap - October 1, 2017 Category: General Medicine Authors: Hadzsiev K, Szőts M, Fekete A, Balikó L, Boycott K, Nagy F, Melegh B Tags: Orv Hetil Source Type: research