Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient

Vasilyeva, Tatyana A.; Sukhanova, Natella V.; Marakhonov, Andrey V.; Kuzina, Natalia Yu.; Shilova, Nadezhda V.; Kadyshev, Vitaly V.; Kutsev, Sergey I.; Zinchenko, Rena A.

doi:10.3390/ijms242115527

Open AccessCase Report

Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient

by

Tatyana A. Vasilyeva

,

Natella V. Sukhanova

,

Andrey V. Marakhonov

^*

,

Natalia Yu. Kuzina

,

Nadezhda V. Shilova

,

Vitaly V. Kadyshev

,

Sergey I. Kutsev

and

Rena A. Zinchenko

Research Centre for Medical Genetics, 115522 Moscow, Russia

^*

Author to whom correspondence should be addressed.

Int. J. Mol. Sci. 2023, 24(21), 15527; https://doi.org/10.3390/ijms242115527

Submission received: 27 September 2023 / Revised: 17 October 2023 / Accepted: 19 October 2023 / Published: 24 October 2023

(This article belongs to the Special Issue Distribution and Regularity of Genetic Epidemiology Interpreted from Molecular Perspective)

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Abstract

This study aims to present a clinical case involving the unique co-occurrence of congenital aniridia and Down syndrome in a young girl and to analyze the combined impact of these conditions on the patient’s phenotype. The investigation involved comprehensive pediatric and ophthalmological examinations alongside karyotyping and Sanger sequencing of the PAX6 gene. The patient exhibited distinctive features associated with both congenital aniridia and Down syndrome, suggesting a potential exacerbation of their effects. Cytogenetic and molecular genetic analysis revealed the presence of trisomy 21 and a known pathogenic nonsense variant in exon 6 of the PAX6 gene (c.282C>A, p.(Cys94*)) corresponding to the paired domain of the protein. The observation of these two hereditary anomalies offers valuable insights into the molecular pathogenetic mechanisms underlying each condition. Additionally, it provides a basis for a more nuanced prognosis of the complex disease course in this patient. This case underscores the importance of considering interactions between different genetic disorders in clinical assessments and treatment planning.

Keywords: rare diseases; co-occurrence; complex phenotype; PAX6 nonsense variant; congenital aniridia; trisomy 21; Down syndrome

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MDPI and ACS Style

Vasilyeva, T.A.; Sukhanova, N.V.; Marakhonov, A.V.; Kuzina, N.Y.; Shilova, N.V.; Kadyshev, V.V.; Kutsev, S.I.; Zinchenko, R.A. Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient. Int. J. Mol. Sci. 2023, 24, 15527. https://doi.org/10.3390/ijms242115527

AMA Style

Vasilyeva TA, Sukhanova NV, Marakhonov AV, Kuzina NY, Shilova NV, Kadyshev VV, Kutsev SI, Zinchenko RA. Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient. International Journal of Molecular Sciences. 2023; 24(21):15527. https://doi.org/10.3390/ijms242115527

Chicago/Turabian Style

Vasilyeva, Tatyana A., Natella V. Sukhanova, Andrey V. Marakhonov, Natalia Yu. Kuzina, Nadezhda V. Shilova, Vitaly V. Kadyshev, Sergey I. Kutsev, and Rena A. Zinchenko. 2023. "Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient" International Journal of Molecular Sciences 24, no. 21: 15527. https://doi.org/10.3390/ijms242115527

APA Style

Vasilyeva, T. A., Sukhanova, N. V., Marakhonov, A. V., Kuzina, N. Y., Shilova, N. V., Kadyshev, V. V., Kutsev, S. I., & Zinchenko, R. A. (2023). Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient. International Journal of Molecular Sciences, 24(21), 15527. https://doi.org/10.3390/ijms242115527

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Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient

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