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


METHODS
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.
László
Aranka
A
University of Szeged, Department of Paediatrics and Health Centre, Szeged. laszloar@pedia.szote.u-szeged.hu
Endreffy
Emoke
E
Tümer
Zeynep
Z
Horn
Nina
N
Szabó
János
J
D000251:Adenosine Triphosphatases / Q000235:genetics*; D001120:Arginine; D027682:Cation Transport Proteins / Q000235:genetics*; D015193:Chorionic Villi Sampling; D000073840:Copper-Transporting ATPases; D004252:DNA Mutational Analysis; D005091:Exons; D017809:Fatal Outcome; D005260:Female; D006579:Heterozygote; D006639:Histidine; D006801:Humans; D007223:Infant; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis* / Q000235:genetics*; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D011296:Prenatal Diagnosis / Q000379:methods*; D055815:Young Adult
D027682:Cation Transport Proteins; D006639:Histidine; D001120:Arginine; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases