Evidence map›Paper›PMID 39627470›Full record

ArticleNeurogenetics2024

Neurodegeneration with brain iron accumulation 5: report of three cases.

Sheyda Khalilian, Mohadeseh Fathi, Akram Ghahghaei-Nezamabadi, Mohammad Miryounesi, Soudeh Ghafouri-Fard

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Article in Neurogenetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Sheyda KhalilianStudent Research Committee, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Mohadeseh FathiStudent Research Committee, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Akram Ghahghaei-NezamabadiDepartment of Obstetrics and Gynecology, Arash Women's Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Mohammad MiryounesiDepartment of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran. miryounesi@gmail.com.
Soudeh Ghafouri-FardDepartment of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran. s.ghafourifard@sbmu.ac.ir.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

MutationNeuroaxonal DystrophiesBrainCarrier ProteinsChildChild, PreschoolExome SequencingFemaleHumansIranIron Metabolism DisordersMalePhenotypeCarrier ProteinsWDR45 protein, humanBeta-propeler-associated neurodegeneration (BPAN)Neurodegeneration with brain iron accumulation 5 (NBIA5)SeizuresWDR45

Identifiers

PMID39627470

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