ArticleThe Journal of investigative dermatology2015
Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype.
Article in The Journal of investigative dermatology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 37 citations in OpenAlex.
- CDKL5 Deficiency Disorder: Revealing the Molecular Mechanism of Pathogenic Variants.International journal of molecular sciences · 2025Article
- The face of Non-photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population.Molecular genetics & genomic medicine · 2024Article
- Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation.EMBO molecular medicine · 2023Article
- Ribosomal Dysfunction Is a Common Pathomechanism in Different Forms of Trichothiodystrophy.Cells · 2023Article
- A functional link between lariat debranching enzyme and the intron-binding complex is defective in non-photosensitive trichothiodystrophy.Molecular cell · 2023Article
- A Rare Contiguous Gene Deletion Leading to Trichothiodystrophy Type 4 and Glutaric Aciduria Type 3.Molecular syndromology · 2023Article
- Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis.American journal of medical genetics. Part A · 2022Article
- CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeutic development.Biochemical Society transactions · 2022Review
- Trichothiodystrophy hair shafts display distinct ultrastructural features.Experimental dermatology · 2022Article
- CDKL5 kinase controls transcription-coupled responses to DNA damage.The EMBO journal · 2021Article
- Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.American journal of human genetics · 2019Article
- A homozygous G insertion in MPLKIP leads to TTDN1 with the hypergonadotropic hypogonadism symptom.BMC medical genetics · 2018Article
- Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.PloS one · 2018Article
- Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue.Human molecular genetics · 2017Article
- GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.American journal of human genetics · 2016Article
- Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.BMC medical genetics · 2016Article
- Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression.Molecular autism · 2016Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
Trichothiodystrophy (TTD) is a rare multisystem disorder, characterized by sulfur-deficient hair with alternating dark and light "tiger tail" banding on polarized light microscopy. TTD is caused by mutations in DNA repair/transcription genes XPD, XPB or TTDA, and in TTDN1, a gene of unknown function. Although most of the TTD patients are photosensitive, patients with TTDN1 mutations were reported to be nonphotosensitive. We followed a cohort of 36 TTD patients from 2001 to 2013. We describe five patients from four families with defects in the TTDN1 gene: four had no photosensitivity, and one patient exhibited cutaneous burning. Deep phenotyping of our cohort revealed differences between the patients with and without TTDN1 mutations. Delayed bone age and seizure disorders were overrepresented in the TTDN1 group (P=0.009 and P=0.024, respectively), whereas some characteristic TTD clinical, laboratory, and imaging findings were absent. The three oldest TTDN1 patients displayed autistic behaviors in contrast to the characteristic friendly, socially interactive personality in the other patients. DNA sequencing revealed deletion mutations in TTDN1 ranging in size from a single base pair to over 120 kb. These data identify a distinct phenotype relationship in TTD caused by TTDN1 mutations and suggest a different mechanism of disease.
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