Original Article
Analysis of phenotype and FH gene variation in a pedigree affected with hereditary leiomyomatosis and renal cell carcinoma syndrome
Guo Yilin, Wang Lu, Xu Zhen, Bai Yangyang, Wang Wuliang, Wu Huifang, Sun Yingjie
Published 2022-05-10
Cite as Chin J Med Genet, 2022, 39(5): 494-498. DOI: 10.3760/cma.j.cn511374-20210412-00323
Abstract
ObjectiveTo analyze clinical phenotype and genetic variants in a Chinese pedigree of hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome.
MethodsWhole 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.
ResultsThe 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.
ConclusionThe 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.
Key words:
Hereditary leiomyomatosis and renal cell carcinoma syndrome; Whole exome sequencing; FH gene; Gene variant
Contributor Information
Guo Yilin
Department of Obstetrics and Gynecology, the Second Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450014, China
Henan Gynecological Diseases(Gynecology Oncology)Clinical Research Center, Zhengzhou, Henan 450014, China
Wang Lu
Department of Obstetrics and Gynecology, the Second Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450014, China
Henan Gynecological Diseases(Gynecology Oncology)Clinical Research Center, Zhengzhou, Henan 450014, China
Xu Zhen
Department of Obstetrics and Gynecology, the Second Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450014, China
Henan Gynecological Diseases(Gynecology Oncology)Clinical Research Center, Zhengzhou, Henan 450014, China
Bai Yangyang
Department of Urology, Henan Provincial Hospital of Traditional Chinese Medicine, Zhengzhou, Henan 450002, China
Wang Wuliang
Department of Obstetrics and Gynecology, the Second Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450014, China
Henan Gynecological Diseases(Gynecology Oncology)Clinical Research Center, Zhengzhou, Henan 450014, China
Wu Huifang
Department of Pathology, the Second Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450014, China
Sun Yingjie
Department of Obstetrics and Gynecology, the Second Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450014, China
