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Article

Delineating the CTBP1-Related Phenotypic Spectrum: A Review of HADDTS and Atypical Variants.

International journal of molecular sciences - 6 Aug 2026

Akdaş Enes Yağız, Lu Dingyu, Zhang Linshen, Cheng Mingzhen, Bashiri Dezfouli Ali, Wollenberg Barbara

Abstract excerpt

Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome (HADDTS; OMIM #617915) is an ultra-rare autosomal dominant disorder caused by predominantly de novo pathogenic variants in CTBP1, encoding a NAD(H)-dependent transcriptional corepressor. We reviewed all HADDTS cases reported from database inception to July 2026, searching PubMed/MEDLINE, Google Scholar, ClinVar, DECIPHER, OMIM, preprint...

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Source

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Identifiers

PMID: 42589715
DOI: 10.3390/ijms27157065
PMCID: PMC13467200

Genes

CTBP1
CTBP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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