Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-Cacchione variant of xeroderma pigmentosum
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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/De Sanctis-Cacchione Syndrome: Unusual Cause of Ataxia
INTRODUCTION Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder of DNA repair, with a prevalence of 1 in 1 million. It may also be a cause of neurological symptoms including sensorineural hearing loss, peripheral neuropathy, ataxia, and chorea. Severe neurological symptoms including mental retardation, short stature, and hypogonadism invoke De Sanctis-Cacchione syndrome (DCS). ...
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...
متن کاملTranscription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndrome.
Defects in the XPD gene can result in several clinical phenotypes, including xeroderma pigmentosum (XP), trichothiodystrophy, and, less frequently, the combined phenotype of XP and Cockayne syndrome (XP-D/CS). We previously showed that in cells from two XP-D/CS patients, breaks were introduced into cellular DNA on exposure to UV damage, but these breaks were not at the sites of the damage. In t...
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 ...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2000
ISSN: 1460-2083
DOI: 10.1093/hmg/9.8.1171