Analysis of phenotype and FH gene variation in a pedigree affected with hereditary leiomyomatosis and renal cell carcinoma syndrome.
10.3760/cma.j.cn511374-20210412-00323
- Author:
Yilin GUO
1
;
Lu WANG
;
Zhen XU
;
Yangyang BAI
;
Wuliang WANG
;
Huifang WU
;
Yingjie SUN
Author Information
1. Department of Obstetrics and Gynecology, the Second Affiliated Hospital of Zhengzhou University,Zhengzhou, Henan 450014, China. xuzhen413@126.com.
- Publication Type:Journal Article
- MeSH:
Carcinoma, Renal Cell/genetics*;
Humans;
Kidney Neoplasms/genetics*;
Leiomyomatosis/pathology*;
Mutation;
Neoplastic Syndromes, Hereditary;
Pedigree;
Phenotype;
Skin Neoplasms;
Uterine Neoplasms
- From:
Chinese Journal of Medical Genetics
2022;39(5):494-498
- CountryChina
- Language:Chinese
-
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.
