Partial paternal uniparental disomy of chromosome 1 in a patient with Stargardt disease
Author Information
Author(s): R. Riveiro-Alvarez, D. Valverde, I. Lorda-Sanchez, M. J. Trujillo-Tiebas, D. Cantalapiedra, E. Vallespin, J. Aguirre-Lamban, C. Ramos, C. Ayuso
Primary Institution: Fundacion Jimenez Diaz
Hypothesis
This study aims to describe a form of non-mendelian inheritance in a patient with Stargardt disease.
Conclusion
Recessive Stargardt disease can rarely be inherited from only one unaffected carrier parent in a non-mendelian manner.
Supporting Evidence
- A patient with Stargardt disease was found to have a homozygous mutation in the ABCA4 gene.
- Haplotype analysis suggested that no maternal ABCA4 allele was transmitted to the patient.
- The cytogenetic study revealed a normal female karyotype.
- Further evaluation showed the patient had a normal dosage for both copies of the ABCA4 gene.
Takeaway
Sometimes, a child can inherit a disease from just one parent who doesn't show any symptoms, which is unusual.
Methodology
DNA from the patient and relatives was analyzed for variants in all 50 exons of the ABCA4 gene using microarray screening and confirmed by direct sequencing.
Limitations
The study could not assess other tissues than peripheral lymphocytes due to loss of contact with the family.
Participant Demographics
The patient was a 40-year-old Caucasian female born to nonconsanguineous, healthy parents.
Want to read the original?
Access the complete publication on the publisher's website