hrp0097fc2.5 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Generation of novel genetic zebrafish models and using RNA-seq analysis to explore the role of ankrd11 gene on bone growth

Shangguan Huakun , Zeng Yan , Zhang Qianru , Chen Ruimin

Key words: KBG syndrome, ANKRD11, zebrafish, CRISPR/CasRx, Wnt signaling pathwayBackground: KBG syndrome (KBGS) is a rare condition caused by variant in ANKRD11 gene, which is characterized by intellectual disability, distinctive facial features, macrodontia of the upper central incisors, skeletal anomalies and short stature. Patients carrying loss-of-function ANKRD11 variants exhibit short stature due to defects of bone develop...

hrp0095p1-117 | Growth and Syndromes | ESPE2022

The elevated levels of Fetuin-A and FGF21 are correlated with metabolic indicators in Turner syndrome

Yao Qian , Chen Ruimin , Yuan Xin , Zhang Ying , Shangguan Huakun , Lin Xiangquan , Yang Xiaohong

Objective: To find the roles of Fetuin-A and FGF21 in metabolic disorders through investigating the correlations between Fetuin-A, FGF21 with metabolic indicators in girls with Turner syndrome (TS).Methods: A cross-sectional study of TS girls ranging from 5 to18 years and age-, body mass index (BMI)- matched healthy girls were recruited from the outpatients in Fuzhou Children’s Hospital of Fujian Medical University...

hrp0092p2-177 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Five Novel Variants of KMT2D/KDM6A Found in Seven Chinese Patients with Kabuki syndrome and a Literature Review of 39 Patients Reported in China

Chen Ruimin , Gong Chunxiu , Shangguan Huakun , Su Chang , Ouyang Qian , Cao Bingyan , Wang Jian

Objective: Report 5 new variants of 7 KMT2D/KDM6A and summarize the clinical manifestations and the mutational spectrum of Kabuki syndrome (KS) by analyzing the reported Chinese cases.Methods: Blood samples were collected for whole-exome sequencing (WES) for 7 patients and their parents if available. Phenotypic and genotypic spectra of 39 previously published unrelated Chinese KS patients were summarized.<p ...