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Genetic and phenotypic continuum of HOXA genes: A case with double HOXA9/HOXA13 mutations

  • Authors:
    • Hager Jaouadi
    • Alexis Theron
    • Giulia Norscini
    • Jean-François Avierinos
    • Stéphane Zaffran
  • View Affiliations / Copyright

    Affiliations: Marseille Medical Genetics, U1251, National Institute of Health and Medical Research (INSERM), School of Medicine, Aix Marseille University, 13005 Marseille, France, Department of Cardiology, Public Assistance‑Hospitals of Marseille, La Timone Hospital, 13005 Marseille, France
    Copyright: © Jaouadi et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 59
    |
    Published online on: January 27, 2023
       https://doi.org/10.3892/mmr.2023.12946
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Abstract

The HOXA genes cluster plays a key role in embryologic development. Mutations in HOXA genes have been linked to different human phenotypes, including developmental delay, limb anomalies, and urogenital malformations. The present study reported a clinical and genetic investigation of a female patient with polymalformative syndrome including left arm agenesis, bicornuate uterus and bicuspid aortic valve. Using whole exome sequencing, two heterozygous missense variants were identified. Of these, one was a novel variant in the HOXA13 gene [p.(Tyr290Ser)] and the second a heterozygous variant in the HOXA9 gene [p.(Ala102Pro)]. To the best of our knowledge, this is the first association of HOXA9/HOXA13 point mutations linked to a syndromic case. In conclusion, the present study suggested that the phenotypic spectrum of vertebral anomalies, anal atresia, cardiac defects, tracheo‑esophageal fistula, renal anomalies and limb abnormalities/hand‑foot‑genital syndrome may be attributable to the combination of different HOXA variants, particularly in patients with a severe clinical presentation. The current report contributed as well to the molecular understanding of HOXA genes‑related phenotypes via the identification of novel variant and genes associations.
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Copy and paste a formatted citation
Spandidos Publications style
Jaouadi H, Theron A, Norscini G, Avierinos J and Zaffran S: Genetic and phenotypic continuum of HOXA genes: A case with double HOXA9/HOXA13 mutations. Mol Med Rep 27: 59, 2023.
APA
Jaouadi, H., Theron, A., Norscini, G., Avierinos, J., & Zaffran, S. (2023). Genetic and phenotypic continuum of HOXA genes: A case with double HOXA9/HOXA13 mutations. Molecular Medicine Reports, 27, 59. https://doi.org/10.3892/mmr.2023.12946
MLA
Jaouadi, H., Theron, A., Norscini, G., Avierinos, J., Zaffran, S."Genetic and phenotypic continuum of HOXA genes: A case with double HOXA9/HOXA13 mutations". Molecular Medicine Reports 27.3 (2023): 59.
Chicago
Jaouadi, H., Theron, A., Norscini, G., Avierinos, J., Zaffran, S."Genetic and phenotypic continuum of HOXA genes: A case with double HOXA9/HOXA13 mutations". Molecular Medicine Reports 27, no. 3 (2023): 59. https://doi.org/10.3892/mmr.2023.12946
Copy and paste a formatted citation
x
Spandidos Publications style
Jaouadi H, Theron A, Norscini G, Avierinos J and Zaffran S: Genetic and phenotypic continuum of HOXA genes: A case with double HOXA9/HOXA13 mutations. Mol Med Rep 27: 59, 2023.
APA
Jaouadi, H., Theron, A., Norscini, G., Avierinos, J., & Zaffran, S. (2023). Genetic and phenotypic continuum of HOXA genes: A case with double HOXA9/HOXA13 mutations. Molecular Medicine Reports, 27, 59. https://doi.org/10.3892/mmr.2023.12946
MLA
Jaouadi, H., Theron, A., Norscini, G., Avierinos, J., Zaffran, S."Genetic and phenotypic continuum of HOXA genes: A case with double HOXA9/HOXA13 mutations". Molecular Medicine Reports 27.3 (2023): 59.
Chicago
Jaouadi, H., Theron, A., Norscini, G., Avierinos, J., Zaffran, S."Genetic and phenotypic continuum of HOXA genes: A case with double HOXA9/HOXA13 mutations". Molecular Medicine Reports 27, no. 3 (2023): 59. https://doi.org/10.3892/mmr.2023.12946
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