Identification of SPAST gene variant in a pedigree affected with hereditary spastic paraplegia type 4 / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 1261-1264, 2020.
Article
en Zh
| WPRIM
| ID: wpr-879481
Biblioteca responsable:
WPRO
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a pedigree affected with hereditary spastic paraplegia type 4 (HSP4).@*METHODS@#Peripheral venous blood samples were taken from members of the four-generation pedigree and 50 healthy controls for the extraction of genomic DNA. Genes associated with peripheral neuropathy and hereditary spastic paraplegia were captured and subjected to targeted capture and next-generation sequencing. The results were confirmed by Sanger sequencing.@*RESULTS@#DNA sequencing suggested that the proband has carried a heterozygous c.1196C>G variant in exon 9 of the SPAST gene, which can cause substitution of serine by threonine at position 399 (p.Ser399Trp) and lead to change in the protein function. The same variant was also detected in other patients from the pedigree but not among unaffected individuals or the 50 healthy controls. Based on the ACMG 2015 guidelines, the variant was predicted to be possibly pathogenic.@*CONCLUSION@#The c.1196C>G variant of the SPAST gene probably underlay the HSP4 in this pedigree.
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Base de datos:
WPRIM
Asunto principal:
Paraplejía
/
Linaje
/
Secuencia de Bases
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Paraplejía Espástica Hereditaria
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Análisis de Secuencia de ADN
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Espastina
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Mutación
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2020
Tipo del documento:
Article