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Molecular genetic mutation analysis in Menkes-disease with prenatal diagnosis
Aranka László1, Emoke Endreffy, Zeynep Tümer
1University of Szeged, Department of Paediatrics and Health Centre, Szeged. laszloar@pedia.szote.u-szeged.hu
Unlabelled:
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.
Insights
Menkes disease (MD), a lethal genetic disorder, involves neurodegeneration and kinky hair. Genetic analysis identified a severe mutation in the ATP7A gene, enabling prenatal diagnosis for at-risk families.
Area of Science:
- Genetics
- Molecular Biology
- Pediatrics
Background:
- Menkes disease (MD) is a severe X-linked recessive disorder characterized by neurodegeneration, connective tissue issues, and distinctive kinky hair.
- Early diagnosis and genetic analysis are crucial for managing this lethal condition and providing genetic counseling.
Observation:
- A Hungarian male infant presented with clinical symptoms consistent with Menkes disease.
- Molecular genetic analysis focused on the ATP7A gene, specifically examining the 12th exon.
Findings:
- Dideoxy-finger printing (DDF), PCR, and direct sequencing revealed a missense mutation (Arg844His) in exon 12 of the ATP7A gene.
- This specific mutation was identified as the cause of the severe, fatal presentation of Menkes disease in the infant.
Implications:
- The identification of this ATP7A mutation allows for precise prenatal diagnosis in families with a history of Menkes disease.
- This genetic finding facilitates informed reproductive decisions and family planning for carriers and affected families.
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