A child with diffuse mesangial sclerosis caused by a missense mutation of TRPC6 gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 325-329, 2022.
Article
en Zh
| WPRIM
| ID: wpr-928412
Biblioteca responsable:
WPRO
ABSTRACT
OBJECTIVE@#To explore the genetic etiology and clinical outcome of a child with steroid-resistant nephrotic syndrome and diffuse mesangial sclerosis.@*METHODS@#Genomic DNA was extracted from peripheral blood leukocytes of the proband and his parents. Targeted capture - next generation sequencing and Sanger sequencing were carried out. Candidate variant was verified by segregation analysis in his family.@*RESULTS@#A heterozygous missense variant of the TRPC6 gene, namely c.325G>A (p.Gly109Ser), was detected in the proband. The same variant was not detected in either parent. According to the guidelines for the interpretation of sequence variants developed by American College of Medical Genetics and Genomics, the variant was predicted as pathogenic.@*CONCLUSION@#The missense variant of the TRPC6 gene probably underlay the diffuse mesangial sclerosis in this patient. Above finding has expanded the phenotypic spectrum of the TRPC6 gene.
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Esclerosis
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Mutación Missense
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Genómica
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Canal Catiónico TRPC6
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Síndrome Nefrótico
Tipo de estudio:
Guideline
/
Prognostic_studies
Límite:
Child
/
Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2022
Tipo del documento:
Article