Neuroacanthocytosis diagnózisa új generációs exom-szekvenálással

Translated title of the contribution: Neuroacanthocytosis diagnosis with new generation whole exome sequencing

Hadzsiev Kinga, Szots Monika, Fekete Anett, Baliko Laszlo, Kim Boycott, Nagy Ferenc, B. Melegh

Research output: Contribution to journalArticle

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.

Original languageHungarian
Pages (from-to)1681-1684
Number of pages4
JournalOrvosi Hetilap
Volume158
Issue number42
DOIs
Publication statusPublished - Oct 1 2017

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Neuroacanthocytosis
Exome
Mutation
Nonsense Codon
Huntington Disease
Rare Diseases
Exons
Genes

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Kinga, H., Monika, S., Anett, F., Laszlo, B., Boycott, K., Ferenc, N., & Melegh, B. (2017). Neuroacanthocytosis diagnózisa új generációs exom-szekvenálással. Orvosi Hetilap, 158(42), 1681-1684. https://doi.org/10.1556/650.2017.30880

Neuroacanthocytosis diagnózisa új generációs exom-szekvenálással. / Kinga, Hadzsiev; Monika, Szots; Anett, Fekete; Laszlo, Baliko; Boycott, Kim; Ferenc, Nagy; Melegh, B.

In: Orvosi Hetilap, Vol. 158, No. 42, 01.10.2017, p. 1681-1684.

Research output: Contribution to journalArticle

Kinga, H, Monika, S, Anett, F, Laszlo, B, Boycott, K, Ferenc, N & Melegh, B 2017, 'Neuroacanthocytosis diagnózisa új generációs exom-szekvenálással', Orvosi Hetilap, vol. 158, no. 42, pp. 1681-1684. https://doi.org/10.1556/650.2017.30880
Kinga H, Monika S, Anett F, Laszlo B, Boycott K, Ferenc N et al. Neuroacanthocytosis diagnózisa új generációs exom-szekvenálással. Orvosi Hetilap. 2017 Oct 1;158(42):1681-1684. https://doi.org/10.1556/650.2017.30880
Kinga, Hadzsiev ; Monika, Szots ; Anett, Fekete ; Laszlo, Baliko ; Boycott, Kim ; Ferenc, Nagy ; Melegh, B. / Neuroacanthocytosis diagnózisa új generációs exom-szekvenálással. In: Orvosi Hetilap. 2017 ; Vol. 158, No. 42. pp. 1681-1684.
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