A Friedreich-ataxia molekuláris genetikai diagnosztikája. Beküldött minták analízisével szerzett tízéves tapasztalataink

Translated title of the contribution: Molecular genetic diagnostics of Friedreich's ataxia. Ten years' experience based on analysis of blood samples

Research output: Contribution to journalArticle

Abstract

Mutations of the frataxin gene give the most common underlying genetic background of recessively inheritable type ataxias in Europe. In our department, we have been establishing the molecular genetic diagnosis of Friedreich's ataxia since 2001. We analyzed a total of 221 blood samples from the whole country. Methods: After fragment analysis we performed direct exon sequencing. Results: This study summarizes the retrospective analysis of these genetic test results. Pathological alteration was identified in altogether 26 cases. 2 expanded alleles were found in intron 1 in all 26 genetically confirmed patients; which is not more than 12% of the total analyzed samples. We did exon sequencing in the case of patients having one expanded allele and found no point mutation in any of the cases. Conclusions: In our setting, we could not verify the diagnosis by genetic analysis in a remarkable number of patients, which on one hand underlines the importance of clinical neurologic and clinical genetic analyses before performing tests, and on the other hand, it raises the need to examine the patients for other ataxia types.

Original languageHungarian
Pages (from-to)852-855
Number of pages4
JournalOrvosi Hetilap
Volume153
Issue number22
DOIs
Publication statusPublished - Jun 2012

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Friedreich Ataxia
Molecular Pathology
Molecular Biology
Ataxia
Exons
Alleles
Point Mutation
Introns
Nervous System
Retrospective Studies
Mutation
Genes

ASJC Scopus subject areas

  • Medicine(all)

Cite this

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title = "A Friedreich-ataxia molekul{\'a}ris genetikai diagnosztik{\'a}ja. Bek{\"u}ld{\"o}tt mint{\'a}k anal{\'i}zis{\'e}vel szerzett t{\'i}z{\'e}ves tapasztalataink",
abstract = "Mutations of the frataxin gene give the most common underlying genetic background of recessively inheritable type ataxias in Europe. In our department, we have been establishing the molecular genetic diagnosis of Friedreich's ataxia since 2001. We analyzed a total of 221 blood samples from the whole country. Methods: After fragment analysis we performed direct exon sequencing. Results: This study summarizes the retrospective analysis of these genetic test results. Pathological alteration was identified in altogether 26 cases. 2 expanded alleles were found in intron 1 in all 26 genetically confirmed patients; which is not more than 12{\%} of the total analyzed samples. We did exon sequencing in the case of patients having one expanded allele and found no point mutation in any of the cases. Conclusions: In our setting, we could not verify the diagnosis by genetic analysis in a remarkable number of patients, which on one hand underlines the importance of clinical neurologic and clinical genetic analyses before performing tests, and on the other hand, it raises the need to examine the patients for other ataxia types.",
keywords = "frataxin, Friedreich's ataxia, triplet extension",
author = "P. Kisfali and B. Melegh",
year = "2012",
month = "6",
doi = "10.1556/OH.2012.29372",
language = "Hungarian",
volume = "153",
pages = "852--855",
journal = "Orvosi Hetilap",
issn = "0030-6002",
publisher = "Akademiai Kiado",
number = "22",

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T1 - A Friedreich-ataxia molekuláris genetikai diagnosztikája. Beküldött minták analízisével szerzett tízéves tapasztalataink

AU - Kisfali, P.

AU - Melegh, B.

PY - 2012/6

Y1 - 2012/6

N2 - Mutations of the frataxin gene give the most common underlying genetic background of recessively inheritable type ataxias in Europe. In our department, we have been establishing the molecular genetic diagnosis of Friedreich's ataxia since 2001. We analyzed a total of 221 blood samples from the whole country. Methods: After fragment analysis we performed direct exon sequencing. Results: This study summarizes the retrospective analysis of these genetic test results. Pathological alteration was identified in altogether 26 cases. 2 expanded alleles were found in intron 1 in all 26 genetically confirmed patients; which is not more than 12% of the total analyzed samples. We did exon sequencing in the case of patients having one expanded allele and found no point mutation in any of the cases. Conclusions: In our setting, we could not verify the diagnosis by genetic analysis in a remarkable number of patients, which on one hand underlines the importance of clinical neurologic and clinical genetic analyses before performing tests, and on the other hand, it raises the need to examine the patients for other ataxia types.

AB - Mutations of the frataxin gene give the most common underlying genetic background of recessively inheritable type ataxias in Europe. In our department, we have been establishing the molecular genetic diagnosis of Friedreich's ataxia since 2001. We analyzed a total of 221 blood samples from the whole country. Methods: After fragment analysis we performed direct exon sequencing. Results: This study summarizes the retrospective analysis of these genetic test results. Pathological alteration was identified in altogether 26 cases. 2 expanded alleles were found in intron 1 in all 26 genetically confirmed patients; which is not more than 12% of the total analyzed samples. We did exon sequencing in the case of patients having one expanded allele and found no point mutation in any of the cases. Conclusions: In our setting, we could not verify the diagnosis by genetic analysis in a remarkable number of patients, which on one hand underlines the importance of clinical neurologic and clinical genetic analyses before performing tests, and on the other hand, it raises the need to examine the patients for other ataxia types.

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