hrp0089p2-p283 | Growth & Syndromes P2 | ESPE2018

A Novel in Frame Deletion Mutation in Exon11 in BTK Gene to X-linked Agammaglobulinemia: Case Report and Function Analysis

Xiaomei Hu , Ke Yuan

Objective: X-linked agammaglobulinemia (XLA) is a kind of primary immunodeficiency disease caused by mutations in the gene encoding Bruton agammaglobulinemia tyrosine kinase (BTK). This study, we identified a novel in frame deletion mutation in exon11, c.902 _ c.904 delAAG(p.e301 _ g302 delinsG) in BTK gene and evaluated the function of BTK.Methods: A five-year-old boy presented with recurrent respiratory tract infections. His height wa...

hrp0089p1-p237 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Premature Ovarian Insufficiency in Girls Caused by Autosomal Microdeletions: 3 Case Reports

Yuan Ke , He Minfei , Fang Yanlan , Zhu Jianfang , Liang Li , Wang Chunlin

Objectives: Premature ovarian insufficiency (POI) is mostly considered X chromosome abnormalities in child. Few of POI cases are associated with autosomal abnormalities. This study was to identify new genes involved POI in three girls.Methods: Three girls who came to the hospital because of no menstruation were investigated. They were 14, 15, and 14 years old. They did not find any breast tissue in their physical examination. Clinical data, sex hormones,...