Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: A complex genotype–phenotype relationship
نویسندگان
چکیده
منابع مشابه
Xeroderma pigmentosum-Cockayne syndrome complex
Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). Published information on XP-CS is mostly scattered throughout the literature. We compiled statistics related to symptom prevalence in XP-CS and have written a clinical description of the syndrome. We also drew on clinical practices used in XP an...
متن کاملXeroderma pigmentosum--Cockayne syndrome complex: a further case.
We report on a male patient born to healthy, first cousin, Moroccan parents. During the pregnancy growth retardation was observed. Birth weight, length, and OFC were all well below the 3rd centile. Facial anomalies, microphthalmia, cleft palate, small penis, and flexion contractures of large joints were noted. Cerebral MRI showed dysmyelination. The clinical course was characterised by feeding ...
متن کاملEroderma 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 کاملReduced RNA polymerase II transcription in extracts of cockayne syndrome and xeroderma pigmentosum/Cockayne syndrome cells.
The hereditary disease Cockayne syndrome (CS) is a complex clinical syndrome characterized by arrested post-natal growth as well as neurological and other defects. The CSA and CSB genes are implicated in this disease. The clinical features of CS can also accompany the excision repair-defective hereditary disorder xeroderma pigmentosum (XP) from genetic complementation groups B, D or G. The XPB ...
متن کاملRare case of Cockayne syndrome with xeroderma pigmentosum.
Sir, Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are rare genodermatoses characterized by hypersensitivity to ultraviolet light. XP is a hereditary autosomal recessive condition, manifested clinically by abnormal photosensitivity of the skin and eyes, pigment anomalies, increased risk of cutaneous neoplasms and, frequently, by progressive neural degeneration (1 ± 3). CS is a rare auto...
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ژورنال
عنوان ژورنال: Neuroscience
سال: 2007
ISSN: 0306-4522
DOI: 10.1016/j.neuroscience.2006.12.020