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Article

The CTDP1 Founder Variant in CCFDN: Insights into Pathogenesis, Phenotypic Spectrum and Therapeutic Approaches.

International journal of molecular sciences - 19 Dec 2025

Sabau Iulia Maria, Chera Alexandra, Ungureanu Victor Gabriel, Cretu Stancu Mircea, Chirita-Emandi Adela, Wood Matthew, Puiu Maria, Bucur Octavian

Abstract excerpt

Congenital Cataracts, Facial Dysmorphism, and Neuropathy (CCFDN) syndrome is a rare autosomal recessive disorder predominantly found among Vlax Roma populations, caused by a deep intronic founder variant in the CTDP1 gene. This review synthesizes recent advances in understanding the molecular mechanisms of CTDP1 dysfunction, highlighting its central role in transcriptional regulation, RNA splicing, DNA repair,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41515914
DOI: 10.3390/ijms27010034
PMCID: PMC12785426

Genes

CTDP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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