318 A novel pathomechanism: are Cockayne syndrome and trichothiodystrophy ribosomopathies?
نویسندگان
چکیده
منابع مشابه
Eroderma Pigmentosum, Trichothiodystrophy Nd Cockayne Syndrome: a Complex Enotype–phenotype Relationship
bstract—Patients with the rare genetic disorders, xeroerma pigmentosum (XP), trichothiodystrophy (TTD) and ockayne syndrome (CS) have defects in DNA nucleotide xcision repair (NER). The NER pathway involves at least 28 enes. Three NER genes are also part of the basal transcripion factor, TFIIH. Mutations in 11 NER genes have been ssociated with clinical diseases with at least eight overlaping p...
متن کاملA Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome
Cockayne syndrome (CS) is a rare autosomal recessive multisystem disorder characterized by impaired neurological and sensory functions, cachectic dwarfism, microcephaly, and photosensitivity. This syndrome shows a variable age of onset and rate of progression, and its phenotypic spectrum include a wide range of severity. Due to the progressive nature of this disorder, diagnosis can be more impo...
متن کامل[Trichothiodystrophy: PIBIDS syndrome].
Trichothiodystrophy comprises a heterogeneous group of autosomal recessive entities. This fact gives rise to different interrelated neuroectodermal disorders. From a structural point of view these features are the result of the low tissue sulfur content. We report a case of trichothiodystrophy initially classified as Tay syndrome that based on clinical features, complementary exams as well as o...
متن کاملNEW SYNDROME A Novel DNA Repair Disorder With Thrombocytopenia, Nephrosis, and Features Overlapping Cockayne Syndrome
A Novel DNA Repair Disorder With Thrombocytopenia, Nephrosis, and Features Overlapping Cockayne Syndrome Elizabeth Forsythe, Ruth Wild, Gabrielle Sellick, Richard S. Houlston, Alan R. Lehmann, and Emma Wakeling* Kennedy Galton Centre, North West Thames Regional Genetics Service, The North West London Hospitals NHS Trust, Middlesex, United Kingdom Section of Cancer Genetics, Institute of Cancer ...
متن کاملCockayne syndrome: a case report.
A 4-year-old female with Cockayne syndrome presented for cataract extraction under general anesthesia. She was thin and frail; her neck, epiglottis and larynx were stiff; she was deaf and blind; and she could not speak, sit unaided, or perspire. At the time of her admission, she weighed 5.5 kg. Cockayne syndrome is a disease of childhood characterized by mental retardation and premature aging. ...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2019
ISSN: 0022-202X
DOI: 10.1016/j.jid.2019.07.319