Bibliographic Details
| Title: |
Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort |
| Authors: |
Xue Yang, Yaqi Li, Ye Fang, Hua Shi, Tianchao Xiang, Jiaojiao Liu, Jialu Liu, Xiaoshan Tang, Xiaoyan Fang, Jing Chen, Yihui Zhai, Qian Shen, Yunli Bi, Yanyan Qian, Bingbing Wu, Huijun Wang, Wenhao Zhou, Duan Ma, Haitao Bai, Jianhua Mao, Lizhi Chen, Xiaowen Wang, Xiaojie Gao, Ruifeng Zhang, Jieqiu Zhuang, Aihua Zhang, Xiaoyun Jiang, Hong Xu, Jia Rao |
| Source: |
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-14 (2021) |
| Publisher Information: |
BMC, 2021. |
| Publication Year: |
2021 |
| Collection: |
LCC:Internal medicine
LCC:Genetics |
| Subject Terms: |
Congenital anomalies of the kidneys and urinary tract (CAKUT), PAX2, Renal coloboma syndrome (RCS), Phenotypic cluster analysis, Internal medicine, RC31-1245, Genetics, QH426-470 |
| More Details: |
Abstract Background Pathogenic variants of PAX2 cause autosomal-dominant PAX2-related disorder, which includes variable phenotypes ranging from renal coloboma syndrome (RCS), congenital anomalies of the kidney and urinary tract (CAKUT) to nephrosis. Phenotypic variability makes it difficult to define the phenotypic spectrum associated with genotype. Methods We collected the phenotypes in patients enrolled in the China national multicenter registry who were diagnosed with pathogenic variant in PAX2 and reviewed all published cases with PAX2-related disorders. We conducted a phenotype-based cluster analysis by variant types and molecular modeling of the structural impact of missense variants. Results Twenty different PAX2 pathogenic variants were identified in 32 individuals (27 families) with a diagnosis of RCS (9), CAKUT (11) and nephrosis (12) from the Chinese cohort. Individuals with abnormal kidney structure (RCS or CAKUT group) tended to have likely/presumed gene disruptive (LGD) variants (Fisher test, p |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
1755-8794 |
| Relation: |
https://doaj.org/toc/1755-8794 |
| DOI: |
10.1186/s12920-021-01102-x |
| Access URL: |
https://doaj.org/article/8899d41f183342d5afdd1a32a630a7c5 |
| Accession Number: |
edsdoj.8899d41f183342d5afdd1a32a630a7c5 |
| Database: |
Directory of Open Access Journals |
