Hereditary Thrombotic Thrombocytopenic Purpura in a Chinese Boy With a Novel Compound Heterozygous Mutation of the ADAMTS13 Gene

Frontiers in Pediatrics

article

Yi-ling Dai¹  Xue Tang¹  Hong-bo Chen¹  Qiu-yu Peng¹  Xia Guo¹  Ju Gao¹ 

[1] Department of Pediatrics, West China Second University Hospital, Sichuan University;Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education

关键词: hereditary thrombotic thrombocytopenic purpura;    Upshaw-Schulman syndrome;    ADAMTS13;    novel mutation;    Chinese;   

DOI  :  10.3389/fped.2020.00554

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

Hereditary thrombotic thrombocytopenic purpura (TTP) is caused by ADAMTS13 mutations with autosomal recessive inheritance. It typically presents during childhood and is frequently misdiagnosed as immune thrombocytopenia. We present a case of hereditary TTP with an undescribed compound heterozygous ADAMTS13 mutation in a Chinese boy. A 12-year-old boy with a history of intermittent thrombocytopenia in the prior 6 years had severe deficiency of plasma ADAMTS13 and harbored a novel compound heterozygous mutation which was also identified in his sister. The c.577C>T was a pathogenic variant reported exclusively in Japanese cases. The undescribed c.2397C>A non-sense mutation was predicted to encode a truncated protein. Identification of the specific novel heterozygous ADAMTS13 mutation in the Chinese family, consisting a variant restricted to Asian individuals and an undescribed c.2397C>A non-sense mutation, demonstrates genetic diversity underlying hereditary TTP, and possibly ethnic skewed mutation profiles.

【 授权许可】

CC BY