Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.
Background: Lowe syndrome is characterized by the presence of congenital cataracts, psychomotor retardation, and dysfunctional proximal renal tubules. This study presents a case of an atypical phenotype, investigates the genetic characteristics of eight children diagnosed with Lowe syndrome in south...
| Published in: | Pediatric Nephrology Vol. 39; no. 8; pp. 2377 - 2392 |
|---|---|
| Main Authors: | , , , , , , , , , , , , , , , , |
| Format: | research tables/charts Journal Article |
| Published: |
Springer Nature
Aug2024
|
| Online Access: | View this record in EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=178064758&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 178064758 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 0931041X EF1 jtl: Pediatric Nephrology issn: 0931041X maglogo: N pubinfo: dt: Aug2024 vid: 39 iid: 8 pid: 237 pub: Springer Nature place: New York, New York artinfo: ui: 178064758 176463811 178064758 178064758 10.1007/s00467-024-06356-y 178064758 ppf: 2377 ppct: 15 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome. aug: au: Du, Rong Zhou, Chengcheng Chen, Shehong Li, Tong Lin, Yunting Xu, Aijing Huang, Yonglan Mei, Huifen Huang, Xiaoli Tan, Dongdong Zheng, Ruidan Liang, Cuili Cai, Yanna Shao, Yongxian Zhang, Wen Liu, Li Zeng, Chunhua affil: Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangdong Provincial Clinical Research Center for Child Health, National Children's Medical Center for South Central Region, Guangzhou Medical University, 510623, Guangzhou, China sug: subj: Oculocerebrorenal Syndrome Symptoms Oculocerebrorenal Syndrome Familial and Genetic Oculocerebrorenal Syndrome Physiopathology Diagnostic Errors Prevention and Control Phenotype Mutation Genetic Screening Chinese Persons Human China Funding Source Oculocerebrorenal Syndrome Diagnosis Multicenter Studies Retrospective Design Record Review Genetic Variation Proteinuria Cognition Disorders Gene Expression Sequence Analysis Case Studies ab: Background: Lowe syndrome is characterized by the presence of congenital cataracts, psychomotor retardation, and dysfunctional proximal renal tubules. This study presents a case of an atypical phenotype, investigates the genetic characteristics of eight children diagnosed with Lowe syndrome in southern China, and performs functional analysis of the novel variants. Methods: Whole-exome sequencing was conducted on eight individuals diagnosed with Lowe syndrome from three medical institutions in southern China. Retrospective collection and analysis of clinical and genetic data were performed, and functional analysis was conducted on the five novel variants. Results: In our cohort, the clinical symptoms of the eight Lowe syndrome individuals varied. One patient was diagnosed with Lowe syndrome but did not present with congenital cataracts. Common features among all patients included cognitive impairment, short stature, and low molecular weight proteinuria. Eight variations in the OCRL gene were identified, encompassing three previously reported and five novel variations. Among the novel variations, three nonsense mutations were determined to be pathogenic, and two patients harboring novel missense variations of uncertain significance exhibited severe typical phenotypes. Furthermore, all novel variants were associated with altered protein expression levels and impacted primary cilia formation. Conclusion: This study describes the first case of an atypical Lowe syndrome patient without congenital cataracts in China and performs a functional analysis of novel variants in the OCRL gene, thereby expanding the understanding of the clinical manifestations and genetic diversity associated with Lowe syndrome. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
|---|