[Genetic analysis of a pedigree affected with distal hereditary motor neuronopathy V].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(3): 207-211, 2019 Mar 10.
Article
en Zh
| MEDLINE
| ID: mdl-30835347
ABSTRACT
OBJECTIVE:
To carry out genetic testing for a family affected with distal hereditary motor neuronopathy V (dHMN V).METHODS:
Potential mutations of the GARS and BSCL2 genes were analyzed with PCR and Sanger sequencing. Suspected mutation was verified among unaffected members of the family and 100 healthy controls. Prenatal diagnosis was provided based on the above results.RESULTS:
Sequencing analysis has identified a heterozygous c.269C>T (p.S90L) mutation in the BSCL2 gene, which resulted in replacement of Serine (TCG) to Leucine (TTG). The same mutation was found in all other 3 patients from the pedigree but not among unaffected members or the 100 healthy controls. By prenatal diagnosis, the fetus did not carry the above mutation.CONCLUSION:
Pathogenic mutation of BSCL2 gene probably underlies the dHMN V in this pedigree, which enabled prenatal diagnosis for the proband.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Atrofia Muscular Espinal
Límite:
Female
/
Humans
/
Pregnancy
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2019
Tipo del documento:
Article
País de afiliación:
China