Molecular genetic mutation analysis in menkes-disease with prenatal diagnosis

Aranka László, E. Endreffy, Zeynep Tümer, Nina Horn, János Szabó

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Menkes disease (MD) is an X-linked recessive multisystemic lethal, heredodegenerative disorder. Progressive neurodegeneration and connective tissue disturbances with microscopically kinky hair are the main symptoms. Molecular genetic mutation analysis was made at a Hungarian male infant suffering from MD and prenatal diagnosis was done in this MD loaded family. Method - The 12th exon of ATP7A gene has been analyzed by dideoxy-finger printing (DDF), polymerase chain reaction (PCR), direct sequencing of exon 12. The specific mutation was screened from chorionic villi of the maternal aunt at the 14th gestational week. Results - In the exon 12th a basic pair substitution with Arg 844 His change was detected leading to very severe fatal missense mutation.

Original languageEnglish
Pages (from-to)48-51
Number of pages4
JournalIdeggyógyászati szemle
Volume63
Issue number1-2
Publication statusPublished - Jan 30 2010

Fingerprint

Menkes Kinky Hair Syndrome
Prenatal Diagnosis
Molecular Biology
Exons
Mutation
Chorionic Villi
Printing
Missense Mutation
Connective Tissue
Hair
Fingers
Mothers
Polymerase Chain Reaction
Genes

Keywords

  • Arg 844 His
  • ATP7A gene
  • Menkes kinky hair disease
  • Molecular genetic mutation analysis
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

László, A., Endreffy, E., Tümer, Z., Horn, N., & Szabó, J. (2010). Molecular genetic mutation analysis in menkes-disease with prenatal diagnosis. Ideggyógyászati szemle, 63(1-2), 48-51.

Molecular genetic mutation analysis in menkes-disease with prenatal diagnosis. / László, Aranka; Endreffy, E.; Tümer, Zeynep; Horn, Nina; Szabó, János.

In: Ideggyógyászati szemle, Vol. 63, No. 1-2, 30.01.2010, p. 48-51.

Research output: Contribution to journalArticle

László, A, Endreffy, E, Tümer, Z, Horn, N & Szabó, J 2010, 'Molecular genetic mutation analysis in menkes-disease with prenatal diagnosis', Ideggyógyászati szemle, vol. 63, no. 1-2, pp. 48-51.
László, Aranka ; Endreffy, E. ; Tümer, Zeynep ; Horn, Nina ; Szabó, János. / Molecular genetic mutation analysis in menkes-disease with prenatal diagnosis. In: Ideggyógyászati szemle. 2010 ; Vol. 63, No. 1-2. pp. 48-51.
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