Analysis of phenotype and FH gene variation in a pedigree affected with hereditary leiomyomatosis and renal cell carcinoma syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 494-498, 2022.
Article
em Zh
| WPRIM
| ID: wpr-928444
Biblioteca responsável:
WPRO
ABSTRACT
OBJECTIVE@#To analyze clinical phenotype and genetic variants in a Chinese pedigree of hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome.@*METHODS@#Whole exome sequencing was carried out for the proband from the pedigree. Suspected FH gene variants were validated by Sanger sequencing. Clinical manifestation and histopathological examination were used to analyze the pedigree comprehensively.@*RESULTS@#The pedigree met the clinical diagnostic criteria for HLRCC syndrome. The whole exome sequencing showed that the FH gene of the proband had a heterozygous missense variant of c.1490T>C (p.F497S), which was consistent with the Sanger sequencing. The mother, daughter and son of the proband all had the heterozygous missense variant of c.1490T>C (p.F497S). According to the American Society of Medical Genetics and Genomics Classification Standards and Guidelines for Genetic Variations, c.1490T>C (p.F497S) (PM2+PP1-M+PP3+PP4) was a possible pathogenic variant. Based on our literature search, this variant was a new variant that had not been reported.@*CONCLUSION@#The FH gene missense variant of c.1490T>C (p.F497S) may be the cause of the HLRCC syndrome pedigree, which provides a basis for the genetic diagnosis and genetic counseling of the HLRCC syndrome.
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Índice:
WPRIM
Assunto principal:
Linhagem
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Fenótipo
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Neoplasias Cutâneas
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Neoplasias Uterinas
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Síndromes Neoplásicas Hereditárias
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Carcinoma de Células Renais
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Leiomiomatose
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Neoplasias Renais
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Mutação
Tipo de estudo:
Guideline
Limite:
Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2022
Tipo de documento:
Article