Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2024 Dec 4;26(1):14.
doi: 10.1007/s10048-024-00783-7.

Neurodegeneration with brain iron accumulation 5: report of three cases

Sheyda Khalilian  1   2 , Mohadeseh Fathi  1   2 , Akram Ghahghaei-Nezamabadi  3 , Mohammad Miryounesi  4   5 , Soudeh Ghafouri-Fard  6
Affiliations
Case Reports

Neurodegeneration with brain iron accumulation 5: report of three cases

Sheyda Khalilian et al. Neurogenetics. .

Abstract

Neurodegeneration with brain iron accumulation 5 (NBIA5) is a distinctive type of NBIA phenotype that is caused by mutations in the WDR45 gene. This disorder is inherited in an X-linked manner. Here, we report three Iranian cases affected with this condition. Whole-exome sequencing revealed the following pathogenic variants within WDR45 gene in these cases, respectively: c.697 C > T (p.R233X), c.657_658del (p.F221X) and c.1004_1005del (p.Y335Cfs*5). Hypothyroidism was detected in two cases. Other clinical manifestations did not significantly differ from cases reported in the literature. All cases occurred de novo. Similar mutations have been reported in the literature. The present study broadens the insight about the genetics of this disorder in the mentioned population.

Keywords: Beta-propeler-associated neurodegeneration (BPAN); Neurodegeneration with brain iron accumulation 5 (NBIA5); Seizures; WDR45.

PubMed Disclaimer

Conflict of interest statement

Declarations. Ethics approval and consent to participate: Informed consent has been obtained from legal representatives of patients. Ethical approval for this study has been obtained from the Ethical Committee of Shahid Beheshti University of Medical Sciences (IR.SBMU.MSP.REC.1401.583). All methods were carried out in accordance with relevant guidelines and regulations. Competing interests: The authors declare no competing interests. Conflict of interest: The authors declare they have no competing interests. Consent to publication: Informed consent has been obtained from legal representatives of patients.

References

    1. Gregory A, Polster BJ, Hayflick SJ (2009) Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet 46(2):73–80. https://doi.org/10.1136/jmg.2008.061929 - DOI - PubMed
    1. Haack TB, Hogarth P, Kruer MC, Gregory A, Wieland T, Schwarzmayr T, Graf E, Sanford L, Meyer E, Kara E, Cuno SM, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Frucht S, Hanspal E, Schrander-Stumpel C, Héron D, Mignot C, Garavaglia B, Bhatia K, Hardy J, Strom TM, Boddaert N, Houlden HH, Kurian MA, Meitinger T, Prokisch H, Hayflick SJ (2012) Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet 91(6):1144–1149. https://doi.org/10.1016/j.ajhg.2012.10.019 - DOI - PubMed - PMC
    1. Kimura Y, Sato N, Sugai K, Maruyama S, Ota M, Kamiya K, Ito K, Nakata Y, Sasaki M, Sugimoto H (2013) MRI, MR spectroscopy, and diffusion tensor imaging findings in patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA). Brain Dev 35(5):458–461. https://doi.org/10.1016/j.braindev.2012.07.008 - DOI - PubMed
    1. Emamikhah M, Saiyarsarai P, Schneider SA, Fasano A, Mohammadzadeh N, Rohani M (2023) Seizure in neurodegeneration with Brain Iron Accumulation: a systematic review. Can J Neurol Sci 50(1):60–71 - DOI - PubMed
    1. Silva MCMA, Rezende TRB, Carneiro ZA, Lourenço CM (2021) BPAN manifesting with febrile seizures and language delay: a case report from Brazil. Clin Biomedical Res 41 (1)

Publication types

Supplementary concepts

LinkOut - more resources