Az MECP2 gén mutációinak analízise direkt szekvenálással magyarországi Rett-szindrómás betegekben

Translated title of the contribution: Analysis of the MECP2 gene by direct sequencing in Hungarian Rett syndrome patients

Judit Kárteszi, Katalin Hollódy, Judit Bene, Eva Morava-Kozicz, Kinga Hadzsiev, Márta Czakó, Béla Melegh, György Kosztolányi

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Introduction: Rett syndrome is an X-linked neurodevelopmental disorder characterized by loss of acquired skills and stereotypical hand movements. Mutations in the gene encoding methyl-CpG-binding protein 2 have been identified as cause of Rett syndrome in 1999. Aim: The authors initialized mutation screening of this gene in Hungarian patients identified on the base of clinical manifestation in various institutes. So far 25 patients were examined who were supposed to have Rett syndrome. Method: Total genomic DNA was extracted from peripheral blood with routine desalting method for mutation analysis. The three coding regions of the gene were amplified with primer pairs described. The PCR products were analysed by direct sequencing. Results: Mutations in methyl-CpG-binding protein 2 gene were found in 17/25 cases (68%). This rate of mutation among Rett patients corresponds well with the findings of other studies. Two novel mutations were found. In the first patient whose history was characterized by a slower than normal progression, a G insertion at the base position 276 of exon 3 was detected, while in the second child a double deletion (191, and 9 bases, resp.) in exon 4 was identified.

Original languageHungarian
Pages (from-to)909-911
Number of pages3
JournalOrvosi Hetilap
Volume145
Issue number17
StatePublished - Apr 1 2004
Externally publishedYes

Fingerprint

Rett Syndrome
Mutation
Methyl-CpG-Binding Protein 2
Genes
Exons
Mutation Rate
Hand
History
Polymerase Chain Reaction
DNA

Keywords

  • MECP2 gene
  • Novel mutations
  • Rett syndrome

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Kárteszi, J., Hollódy, K., Bene, J., Morava-Kozicz, E., Hadzsiev, K., Czakó, M., ... Kosztolányi, G. (2004). Az MECP2 gén mutációinak analízise direkt szekvenálással magyarországi Rett-szindrómás betegekben. Orvosi Hetilap, 145(17), 909-911.

Az MECP2 gén mutációinak analízise direkt szekvenálással magyarországi Rett-szindrómás betegekben. / Kárteszi, Judit; Hollódy, Katalin; Bene, Judit; Morava-Kozicz, Eva; Hadzsiev, Kinga; Czakó, Márta; Melegh, Béla; Kosztolányi, György.

In: Orvosi Hetilap, Vol. 145, No. 17, 01.04.2004, p. 909-911.

Research output: Contribution to journalArticle

Kárteszi, J, Hollódy, K, Bene, J, Morava-Kozicz, E, Hadzsiev, K, Czakó, M, Melegh, B & Kosztolányi, G 2004, 'Az MECP2 gén mutációinak analízise direkt szekvenálással magyarországi Rett-szindrómás betegekben', Orvosi Hetilap, vol. 145, no. 17, pp. 909-911.
Kárteszi J, Hollódy K, Bene J, Morava-Kozicz E, Hadzsiev K, Czakó M et al. Az MECP2 gén mutációinak analízise direkt szekvenálással magyarországi Rett-szindrómás betegekben. Orvosi Hetilap. 2004 Apr 1;145(17):909-911.
Kárteszi, Judit ; Hollódy, Katalin ; Bene, Judit ; Morava-Kozicz, Eva ; Hadzsiev, Kinga ; Czakó, Márta ; Melegh, Béla ; Kosztolányi, György. / Az MECP2 gén mutációinak analízise direkt szekvenálással magyarországi Rett-szindrómás betegekben. In: Orvosi Hetilap. 2004 ; Vol. 145, No. 17. pp. 909-911.
@article{def4ae3f931746be8b6d4779274fadfa,
title = "Az MECP2 g{\'e}n mut{\'a}ci{\'o}inak anal{\'i}zise direkt szekven{\'a}l{\'a}ssal magyarorsz{\'a}gi Rett-szindr{\'o}m{\'a}s betegekben",
abstract = "Introduction: Rett syndrome is an X-linked neurodevelopmental disorder characterized by loss of acquired skills and stereotypical hand movements. Mutations in the gene encoding methyl-CpG-binding protein 2 have been identified as cause of Rett syndrome in 1999. Aim: The authors initialized mutation screening of this gene in Hungarian patients identified on the base of clinical manifestation in various institutes. So far 25 patients were examined who were supposed to have Rett syndrome. Method: Total genomic DNA was extracted from peripheral blood with routine desalting method for mutation analysis. The three coding regions of the gene were amplified with primer pairs described. The PCR products were analysed by direct sequencing. Results: Mutations in methyl-CpG-binding protein 2 gene were found in 17/25 cases (68{\%}). This rate of mutation among Rett patients corresponds well with the findings of other studies. Two novel mutations were found. In the first patient whose history was characterized by a slower than normal progression, a G insertion at the base position 276 of exon 3 was detected, while in the second child a double deletion (191, and 9 bases, resp.) in exon 4 was identified.",
keywords = "MECP2 gene, Novel mutations, Rett syndrome",
author = "Judit K{\'a}rteszi and Katalin Holl{\'o}dy and Judit Bene and Eva Morava-Kozicz and Kinga Hadzsiev and M{\'a}rta Czak{\'o} and B{\'e}la Melegh and Gy{\"o}rgy Kosztol{\'a}nyi",
year = "2004",
month = "4",
day = "1",
language = "Hungarian",
volume = "145",
pages = "909--911",
journal = "Orvosi Hetilap",
issn = "0030-6002",
publisher = "Akademiai Kiado",
number = "17",

}

TY - JOUR

T1 - Az MECP2 gén mutációinak analízise direkt szekvenálással magyarországi Rett-szindrómás betegekben

AU - Kárteszi, Judit

AU - Hollódy, Katalin

AU - Bene, Judit

AU - Morava-Kozicz, Eva

AU - Hadzsiev, Kinga

AU - Czakó, Márta

AU - Melegh, Béla

AU - Kosztolányi, György

PY - 2004/4/1

Y1 - 2004/4/1

N2 - Introduction: Rett syndrome is an X-linked neurodevelopmental disorder characterized by loss of acquired skills and stereotypical hand movements. Mutations in the gene encoding methyl-CpG-binding protein 2 have been identified as cause of Rett syndrome in 1999. Aim: The authors initialized mutation screening of this gene in Hungarian patients identified on the base of clinical manifestation in various institutes. So far 25 patients were examined who were supposed to have Rett syndrome. Method: Total genomic DNA was extracted from peripheral blood with routine desalting method for mutation analysis. The three coding regions of the gene were amplified with primer pairs described. The PCR products were analysed by direct sequencing. Results: Mutations in methyl-CpG-binding protein 2 gene were found in 17/25 cases (68%). This rate of mutation among Rett patients corresponds well with the findings of other studies. Two novel mutations were found. In the first patient whose history was characterized by a slower than normal progression, a G insertion at the base position 276 of exon 3 was detected, while in the second child a double deletion (191, and 9 bases, resp.) in exon 4 was identified.

AB - Introduction: Rett syndrome is an X-linked neurodevelopmental disorder characterized by loss of acquired skills and stereotypical hand movements. Mutations in the gene encoding methyl-CpG-binding protein 2 have been identified as cause of Rett syndrome in 1999. Aim: The authors initialized mutation screening of this gene in Hungarian patients identified on the base of clinical manifestation in various institutes. So far 25 patients were examined who were supposed to have Rett syndrome. Method: Total genomic DNA was extracted from peripheral blood with routine desalting method for mutation analysis. The three coding regions of the gene were amplified with primer pairs described. The PCR products were analysed by direct sequencing. Results: Mutations in methyl-CpG-binding protein 2 gene were found in 17/25 cases (68%). This rate of mutation among Rett patients corresponds well with the findings of other studies. Two novel mutations were found. In the first patient whose history was characterized by a slower than normal progression, a G insertion at the base position 276 of exon 3 was detected, while in the second child a double deletion (191, and 9 bases, resp.) in exon 4 was identified.

KW - MECP2 gene

KW - Novel mutations

KW - Rett syndrome

UR - http://www.scopus.com/inward/record.url?scp=3042526458&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=3042526458&partnerID=8YFLogxK

M3 - Article

C2 - 15170968

AN - SCOPUS:3042526458

VL - 145

SP - 909

EP - 911

JO - Orvosi Hetilap

JF - Orvosi Hetilap

SN - 0030-6002

IS - 17

ER -