A novel mutation in CSF1R associated with hereditary diffuse leukoencephalopathy with spheroids.
Neurol Sci
; 43(1): 411-417, 2022 Jan.
Article
em En
| MEDLINE
| ID: mdl-33948764
ABSTRACT
BACKGROUND:
Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is a rare autosomal-dominant disorder with high penetrance characterized by progressive cognitive and motor dysfunction. The objective of the study was to describe a new variant of the colony stimulating factor-1 receptor (CSF1R) gene causing HDLS in a Chinese family.METHODS:
Physical examinations, laboratory tests, structural neuroimaging studies, and whole-exome sequence analysis were carried out.RESULTS:
Three patients in this family exhibited typical manifestations of HDLS, including progressive cognitive impairment, language and motor dysfunctions, and urinary and bowel incontinence. Genetic analysis identified a heterozygous missense mutation (c.2264T>C, p.L755P) in exon 17 of the CSF1R gene that cosegregated with the HDLS phenotype in an autosomal-dominant pattern. Brain MRI of the proband and her father showed diffuse white matter changes. The proband's 10-year-old son, a gene carrier, remains clinically asymptomatic at present.CONCLUSIONS:
Our findings identify a novel missense mutation, p.L755P, in the CSF1R gene within a Chinese family with autosomal-dominant HDLS and broaden the genetic spectrum of CSF1R-associated HDLS.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Receptores de Fator Estimulador das Colônias de Granulócitos e Macrófagos
/
Leucoencefalopatias
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Adult
/
Child
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Neurol Sci
Assunto da revista:
NEUROLOGIA
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
China