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Bioimpacts. 2023;13(3): 183-190.
doi: 10.34172/bi.2022.23528
PMID: 37431483
PMCID: PMC10329754
Scopus ID: 85171331305
  Abstract View: 476
  PDF Download: 191
  Full Text View: 32

Original Article

Homozygous mutation in CSF1R causes brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS)

Hossein Daghagh 1,2 ORCID logo, Haniyeh Rahbar Kafshboran 2, Yousef Daneshmandpour 1,2, Maryam Nasiri Aghdam 2, Shahrzad Talebian 1, Jafar Nouri Nojadeh 1, Hamid Hamzeiy 2, Saskia Biskup 3, Ebrahim Sakhinia 1,2,4* ORCID logo

1 Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran
2 Tabriz Genetic Analysis Centre (TGAC), Tabriz University of Medical Sciences, Tabriz, Iran
3 CeGaT GmbH, Tuebingen, Germany
4 Connective Tissue Research Center, Tabriz University of Medical Sciences, Tabriz, Iran
*Corresponding Author: Corresponding author: Ebrahim Sakhinia, , Email: esakhinia@yahoo.co.uk

Abstract

Introduction: The CSF1R gene encodes the receptor for colony-stimulating factor-1, the macrophage, and monocyte-specific growth factor. Mutations in this gene cause hereditary diffuse leukoencephalopathy with spheroids (HDLS) with autosomal dominant inheritance and BANDDOS (Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis) with autosomal recessive inheritance.
Methods: Targeted gene sequencing was performed on the genomic DNA samples of the deceased patient and a fetus along with ten healthy members of his family to identify the disease-causing mutation. Bioinformatics tools were used to study the mutation effect on protein function and structure. To predict the effect of the mutation on the protein, various bioinformatics tools were applied.
Results: A novel homozygous variant was identified in the gene CSF1R, c.2498C>T; p.T833M in exon 19, in the index patient and the fetus. Furthermore, some family members were heterozygous for this variant, while they had not any symptoms of the disease. In silico analysis indicated this variant has a detrimental effect on CSF1R. It is conserved among humans and other similar species. The variant is located within the functionally essential PTK domain of the receptor. However, no structural damage was introduced by this substitution.
Conclusion:
In conclusion, regarding the inheritance pattern in the family and clinical manifestations in the index patient, we propose that the mentioned variant in the CSF1R gene may cause BANDDOS.
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Submitted: 08 Dec 2020
Revision: 03 Apr 2022
Accepted: 04 Apr 2022
ePublished: 26 Nov 2022
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