From HDLS to BANDDOS: fast-expanding phenotypic spectrum of disorders caused by mutations in CSF1R.
Journal
Journal of human genetics
ISSN: 1435-232X
Titre abrégé: J Hum Genet
Pays: England
ID NLM: 9808008
Informations de publication
Date de publication:
Dec 2021
Dec 2021
Historique:
received:
26
03
2021
accepted:
26
05
2021
revised:
26
05
2021
pubmed:
18
6
2021
medline:
8
3
2022
entrez:
17
6
2021
Statut:
ppublish
Résumé
Colony-stimulating factor 1 receptor (CSF1R) plays key roles in the development and function of the cells in the monocyte/macrophage lineage, including microglia and osteoclasts. It is well known that mono-allelic mutations of CSF1R cause hereditary diffuse leukoencephalopathy with spheroids (HDLS, OMIM # 221820), an adult-onset progressive neurodegenerative disorder. Recently, a more severe phenotypic spectrum has been identified in individuals with bi-allelic mutations of CSF1R. In addition to leukoencephalopathy of earlier onset than HDLS, the new disease shows brain malformations and skeletal dysplasia compatible with dysosteosclerosis (DOS), thus named "brain abnormalities, neurodegeneration, and dysosteosclerosis" (BANDDOS, OMIM # 618476). In addition, some individuals with bi-allelic missense mutations of CSF1R have been found to present with incomplete BANDDOS where skeletal dysplasia is absent. In this review, we summarize the monogenic disorders caused by mutations in CSF1R and their mutational spectra, and propose a dose-dependent model to explain the complex genotype-phenotype association.
Identifiants
pubmed: 34135456
doi: 10.1038/s10038-021-00942-w
pii: 10.1038/s10038-021-00942-w
doi:
Substances chimiques
CSF1R protein, human
0
Receptors, Granulocyte-Macrophage Colony-Stimulating Factor
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1139-1144Informations de copyright
© 2021. The Author(s), under exclusive licence to The Japan Society of Human Genetics.
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