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Article

Genotype of PAX2-related disorders correlates with kidney and ocular manifestations.

European journal of human genetics : EJHG - 1 Apr 2025

Kim Ji Hyun, Ahn Yo Han, Jang Yeonji, Park Eujin, Lee Hajeong, Kim Seong Heon, Song Ji Yeon, Han Kyoung Hee, Jung Jiwon, Lee Joo Hoon, Kang Hee Gyung, Jung Jae Ho, Cheong Hae Il

Abstract excerpt

PAX2-related disorders encompass renal coloboma syndrome (RCS) and hereditary focal segmental glomerulosclerosis (FSGS) type 7. We retrospectively analyzed 27 Korean patients with PAX2 pathogenic variants detected between 2004 and 2022 and conducted a literature review of 328 cases, including 301 previously reported. In our cohort, 19 had RCS, 4 had FSGS, and 4 had isolated congenital anomalies of the kidneys and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39994403
DOI: 10.1038/s41431-025-01822-z
PMCID: PMC11986020

Genes

PAX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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