Molecular genetic mutation analysis in Menkes-disease with prenatal diagnosis

Aranka László; Emoke Endreffy; Zeynep Tümer; Nina Horn; János Szabó

Molecular genetic mutation analysis in Menkes-disease with prenatal diagnosis

Aranka László, Emoke Endreffy, Zeynep Tümer, Nina Horn, János Szabó

Medical Genetics Program

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 language	English
Journal	Ideggyógyászati szemle
Volume	63
Issue number	1-2
Pages (from-to)	48-51
Number of pages	3
ISSN	0019-1442
Publication status	Published - 30 Jan 2010

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@article{3f098380963711df928f000ea68e967b,

title = "Molecular genetic mutation analysis in Menkes-disease with prenatal diagnosis",

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.",

author = "Aranka L{\'a}szl{\'o} and Emoke Endreffy and Zeynep T{\"u}mer and Nina Horn and J{\'a}nos Szab{\'o}",

note = "Keywords: Adenosine Triphosphatases; Arginine; Cation Transport Proteins; Chorionic Villi Sampling; DNA Mutational Analysis; Exons; Fatal Outcome; Female; Heterozygote; Histidine; Humans; Infant; Male; Menkes Kinky Hair Syndrome; Mutation, Missense; Polymerase Chain Reaction; Prenatal Diagnosis; Young Adult",

year = "2010",

month = jan,

day = "30",

language = "English",

volume = "63",

pages = "48--51",

journal = "Ideggyogyaszati Szemle",

issn = "0019-1442",

publisher = "Literatura Medica Kiado",

number = "1-2",

}

TY - JOUR

T1 - Molecular genetic mutation analysis in Menkes-disease with prenatal diagnosis

AU - László, Aranka

AU - Endreffy, Emoke

AU - Tümer, Zeynep

AU - Horn, Nina

AU - Szabó, János

N1 - Keywords: Adenosine Triphosphatases; Arginine; Cation Transport Proteins; Chorionic Villi Sampling; DNA Mutational Analysis; Exons; Fatal Outcome; Female; Heterozygote; Histidine; Humans; Infant; Male; Menkes Kinky Hair Syndrome; Mutation, Missense; Polymerase Chain Reaction; Prenatal Diagnosis; Young Adult

PY - 2010/1/30

Y1 - 2010/1/30

N2 - 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.

AB - 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.

M3 - Journal article

C2 - 20420124

SN - 0019-1442

VL - 63

SP - 48

EP - 51

JO - Ideggyogyaszati Szemle

JF - Ideggyogyaszati Szemle

IS - 1-2

ER -

Molecular genetic mutation analysis in Menkes-disease with prenatal diagnosis

Abstract

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