Clinical features and genetic analysis of a Chinese pedigree affected with X-linked adrenoleukodystrophy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 60-63, 2022.
Article
Dans Chinois
| WPRIM
| ID: wpr-928362
ABSTRACT
OBJECTIVE@#To analyze the clinical features and variants of ABCD1 gene in a Chinese pedigree affected with X-linked adrenoleukodystrophy.@*METHODS@#Clinical data of the proband were collected and analyzed. Potential variant of the ABCD1 gene were analyzed by PCR and Sanger sequencing of the proband, his parents and 100 unrelated healthy individuals.@*RESULTS@#The prominent features of the proband included cerebellar and brainstem lesions, along with increased serum level of very-long chain fatty acids. He was found to harbor a hemizygous c.1509delG (p.L504Sfs*54) variant of the ABCD1 gene, for which his mother was heterozygous. The same variant was not detected in his father and 100 healthy controls.@*CONCLUSION@#X-linked adrenoleukodystrophy has a variety of clinical manifestations. Discovery of the c.1509delG (p.L504Sfs*54), as a novel pathogenic variant of the ABCD1 gene, has enabled diagnosis and genetic counseling for this pedigree.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Chine
/
Dépistage génétique
/
Adrénoleucodystrophie
/
Asiatiques
/
Mutation
Limites du sujet:
Femelle
/
Humains
/
Mâle
Pays comme sujet:
Asie
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2022
Type:
Article
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS