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Article

Rare Biallelic CTU2 Variants in an Individual With CAKUT: Clinical Characterization and Minigene Splicing Analysis.

Molecular genetics & genomic medicine - 1 Aug 2026

Liu Qian, Cheng Xueqin, Zheng Bixia, Wang Chunli, Zhou Wei, Zhang Aihua

Abstract excerpt

BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) are clinically heterogeneous and remain genetically unexplained in many patients. Biallelic variants in CTU2 have been reported in DREAM-PL syndrome, a severe multisystem disorder characterized by dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly, and lissencephaly. However, to date, there have been no reports...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42515929
DOI: 10.1002/mgg3.70277
PMCID: PMC13408228

Genes

CTU2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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