hrp0095p1-422 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

A heterozygous variant of CYP3A4 in a Chinese boy with Vitamin D-dependent rickets type 3

Gu Shili , Wang Xiumin

Background: Vitamin D-dependent rickets type 3 (VDDR3) is a rare autosomal dominant inheritance disease, which is caused by the gain-of-function mutation in CYP3A4 (c.902T>C p.Ile301Thr).Case Presentation: We report the case of a 32-month-old boy presented with discomfort of both knee-joints, poor mobility, and gait abnormality when running. Laboratory examinations revealed low concentrations of serum calcium, phospho...

hrp0097p1-134 | Multisystem Endocrine Disorders | ESPE2023

Molecular and Phenotypic Expansion of Bardet-biedl Syndrome in Chinese Patients

Gao Shiyang , Zhang Qianwen , Feng Biyun , Gu Shili , Yao Ru-en , Yu Tingting , Ding Yu , Wang Xiumin

Background: Bardet Biedl syndrome(BBS) is a type of non-motile ciliopathy primarily characterized by retinal dystrophy, obesity, polydactyly, cognitive impairment, urogenital anomalies and renal abnormalities. To date, 26 genes have been reported to be associated with BBS: BBS1-BBS21, IFT74, SCLT1, SCAPER and NPHP1. BBS is genetically heterogeneous with significant clinical overlap with other ciliopathies, further c...

hrp0097p1-135 | Multisystem Endocrine Disorders | ESPE2023

A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review

Gao hiyang , Zhang Qianwen , Feng Biyun , Gu Shili , Li Zhiying , Sun Lianping , Yao Ru-en , Yu Tingting , Ding Yu , Wang Xiumin

Background: Primary ciliary dyskinesia (PCD) is a type of ciliary dyskinesia that is usually caused by autosomal recessive inheritance and can manifest as recurrent respiratory infections, bronchiectasis, infertility, laterality defects, and chronic otolaryngological disease. Although ependymal cilia, which affect the flow of cerebrospinal fluid in the central nervous system, have much in common with respiratory cilia in terms of structure and function, hydroc...