Open Access

CHARGE syndrome associated with de novo (I1460Rfs*15) frameshift mutation of CHD7 gene in a patient with arteria lusoria and horseshoe kidney

  • Authors:
    • Cristina Gug
    • Eusebiu Vlad Gorduza
    • Adrian Lăcătuşu
    • Monica Adriana Vaida
    • Florin Bîrsăşteanu
    • Maria Puiu
    • Dorina Stoicănescu
  • View Affiliations

  • Published online on: April 23, 2020     https://doi.org/10.3892/etm.2020.8683
  • Pages: 479-485
  • Copyright: © Gug et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

CHARGE syndrome is an autosomal dominant condition caused by mutations in the chromodomain helicase DNA binding protein 7 (CHD7) gene. The present study reported on the case of a 16‑month‑old female with plurimalformative syndrome, whose etiology was identified by clinical whole‑exome sequencing (WES) analysis. Clinical and follow‑up assessments identified multiple craniofacial dysmorphisms, congenital defects and functional symptoms, including dysphagia and Marcus Gunn jaw winking synkinesis. Trio‑WES analysis was performed for the patient and their parents and the presence of CHARGE syndrome was further indicated using single‑molecule real‑time sequencing. A de novo pathogenic variant, c.4379_4380del (p.Ile1460Argfs*15), was identified in exon 19 of the CHD7 gene, which resulted in a premature translational stop signal. Trio‑WES analysis was used for further investigation, indicating that neither of the patient's parents had the mutation and confirming its de novo nature. To the best of our knowledge, the case of the present study was the first reported case of CHARGE syndrome in Romania with congenital defects including an aberrant right subclavian artery and a horseshoe kidney. CHARGE syndrome was diagnosed in the patient based on the pathogenic mutation in the CHD7 gene. To the best of our knowledge, the present case report is the first to suggest that the CHD7 gene variant is associated with CHARGE syndrome.
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July-2020
Volume 20 Issue 1

Print ISSN: 1792-0981
Online ISSN:1792-1015

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Spandidos Publications style
Gug C, Gorduza EV, Lăcătuşu A, Vaida MA, Bîrsăşteanu F, Puiu M and Stoicănescu D: CHARGE syndrome associated with de novo (I1460Rfs*15) frameshift mutation of CHD7 gene in a patient with arteria lusoria and horseshoe kidney. Exp Ther Med 20: 479-485, 2020
APA
Gug, C., Gorduza, E.V., Lăcătuşu, A., Vaida, M.A., Bîrsăşteanu, F., Puiu, M., & Stoicănescu, D. (2020). CHARGE syndrome associated with de novo (I1460Rfs*15) frameshift mutation of CHD7 gene in a patient with arteria lusoria and horseshoe kidney. Experimental and Therapeutic Medicine, 20, 479-485. https://doi.org/10.3892/etm.2020.8683
MLA
Gug, C., Gorduza, E. V., Lăcătuşu, A., Vaida, M. A., Bîrsăşteanu, F., Puiu, M., Stoicănescu, D."CHARGE syndrome associated with de novo (I1460Rfs*15) frameshift mutation of CHD7 gene in a patient with arteria lusoria and horseshoe kidney". Experimental and Therapeutic Medicine 20.1 (2020): 479-485.
Chicago
Gug, C., Gorduza, E. V., Lăcătuşu, A., Vaida, M. A., Bîrsăşteanu, F., Puiu, M., Stoicănescu, D."CHARGE syndrome associated with de novo (I1460Rfs*15) frameshift mutation of CHD7 gene in a patient with arteria lusoria and horseshoe kidney". Experimental and Therapeutic Medicine 20, no. 1 (2020): 479-485. https://doi.org/10.3892/etm.2020.8683