A Novel Heterozygous Pathogenic Variation in CYCS Gene Cause Autosomal Dominant Non-Syndromic Thrombocytopenia 4 in a Large Chinese Family.

ABSTRACT: Aim: To determine the etiology of a Chinese family with thrombocytopenia by analyzing the clinical features and genetic variation. Methods: Clinical profiles and genomic DNA extracts of the family members were collected for the study. Whole exome sequencing and Sanger sequencing was used to detect the associated genetic variation and verify the family co-segregation respectively. Bioinformatics analysis assessed the pathogenicity of missense mutations. Results: The study reported a 3-generation pedigree including eight family members with thrombocytopenia. The platelet counts of the patients were varied, ranging from 38 to 110 × 10⁹/L (reference range: 150-450 x 10⁹/L). The mean volumes and morphology of the sampled platelet were both normal. The

SUBMITTER: Che F 

PROVIDER: S-EPMC8811603 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature