Neurodegeneration With Brain Iron Accumulation 5: Report of Three Cases

Neurodegeneration With Brain Iron Accumulation 5: Report of Three Cases Publisher Pubmed

Khalilian S^{1, 2} ; Fathi M^{1, 2} ; Ghahghaeinezamabadi A³ ; Miryounesi M^{2, 4} ; Ghafourifard S²

Show Affiliations

1. Student Research Committee, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
2. Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran
3. Department of Obstetrics and Gynecology, Arash Women’s Hospital, Tehran University of Medical Sciences, Tehran, Iran
4. Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran

Source: Neurogenetics Published:2025

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. © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2024.

Related Docs

1. Seizure in Neurodegeneration With Brain Iron Accumulation: A Systematic Review, Canadian Journal of Neurological Sciences (2023)

2. Guidelines for the Use and Interpretation of Assays for Monitoring Autophagy (4Th Edition)1, Autophagy (2021)

Experts (# of related papers)

Hamid Reza Mirzaei (1)

Style	Citing Format
MLA	Khalilian S, et al.. "Neurodegeneration With Brain Iron Accumulation 5: Report of Three Cases." Neurogenetics, vol. 26, no. 1, 2025, pp. -.
APA	Khalilian S, Fathi M, Ghahghaeinezamabadi A, Miryounesi M, Ghafourifard S (2025). Neurodegeneration With Brain Iron Accumulation 5: Report of Three Cases. Neurogenetics, 26(1), -.
Chicago	Khalilian S, Fathi M, Ghahghaeinezamabadi A, Miryounesi M, Ghafourifard S. "Neurodegeneration With Brain Iron Accumulation 5: Report of Three Cases." Neurogenetics 26, no. 1 (2025): -.
Harvard	Khalilian S et al. (2025) 'Neurodegeneration With Brain Iron Accumulation 5: Report of Three Cases', Neurogenetics, 26(1), pp. -.
Vancouver	Khalilian S, Fathi M, Ghahghaeinezamabadi A, Miryounesi M, Ghafourifard S. Neurodegeneration With Brain Iron Accumulation 5: Report of Three Cases. Neurogenetics. 2025;26(1):-.
BibTex	@article{ author = {Khalilian S and Fathi M and Ghahghaeinezamabadi A and Miryounesi M and Ghafourifard S}, title = {Neurodegeneration With Brain Iron Accumulation 5: Report of Three Cases}, journal = {Neurogenetics}, volume = {26}, number = {1}, pages = {-}, year = {2025} }
RIS	TY - JOUR AU - Khalilian S AU - Fathi M AU - Ghahghaeinezamabadi A AU - Miryounesi M AU - Ghafourifard S TI - Neurodegeneration With Brain Iron Accumulation 5: Report of Three Cases JO - Neurogenetics VL - 26 IS - 1 SP - EP - PY - 2025 ER -

Science Communicator Platform

Authors

Authors Affiliations

Abstract