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Article

Clinical and genetic variability of PAX2-related disorder in the Japanese population.

Journal of human genetics - 1 Jun 2020

Rossanti Rini, Morisada Naoya, Nozu Kandai, Kamei Koichi, Horinouchi Tomoko, Yamamura Tomohiko, Minamikawa Shogo, Fujimura Junya, Nagano China, Sakakibara Nana, Ninchoji Takeshi, Kaito Hiroshi, Ito Shuichi, Tanaka Ryojiro, Iijima Kazumoto

Abstract excerpt

Pathogenic variants of paired box gene 2 (PAX2) cause autosomal-dominant PAX2-related disorder, which includes renal coloboma syndrome (RCS). Patients with PAX2-related disorder present with renal and ophthalmological pathologies, as well as with other abnormalities, including developmental problems and hearing loss. We sequenced PAX2 in 457 patients with congenital anomalies of the kidney and urinary tract or...

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PMID: 32203253
DOI: 10.1038/s10038-020-0741-y

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