the clinical and phenotypic features of two siblings (a 12 years old girl and her 7 year old brother) with cockayne syndrome are described. the main problems were mild to moderate mental retardation, dwarfism, clumsy gait, photosensitive skin lesions and progeroid (senile like) appearance. brain ct - scans revealed symmetrical, well defined areas of calcification mainly located at lenticular nu...

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...

Cockayne syndrome (CS) is a severe neurodevelopmental disorder characterized by growth abnormalities, premature aging, and photosensitivity. Mutation of Cockayne syndrome B (CSB) affects neuronal gene expression and differentiation, so we attempted to bypass its function by expressing downstream target genes. Intriguingly, ectopic expression of Synaptotagmin 9 (SYT9), a key component of the mac...

Cockayne syndrome (CS) is a rare genetic disorder characterized by small stature, intellectual disability, and accelerated pathologic aging. Through the Cockayne Syndrome Natural History Study, we have identified 8 cases of acute hepatic failure after metronidazole administration (8% of our cohort), 3 of which were fatal. The interval between initial administration and death was 6 to 11 days. T...

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. ...

Infection by adenovirus 12, transfection with the Ad12 E1B 55 kDa gene, or activation of p53 cause metaphase fragility of four loci (RNU1, PSU1, RNU2, and RN5S) each containing tandemly repeated genes for an abundant small RNA (U1, U2, and 5S RNA). We now show that loss of the Cockayne syndrome group B protein (CSB) or overexpression of the p53 carboxy-terminal domain induces fragility of the s...

TFIIH is a multisubunit factor essential for transcription initiation and promoter escape of RNA polymerase II and for the opening of damaged DNA double strands in nucleotide excision repair (NER). In this study, we have analyzed at which step of the transcription cycle TFIIH is essential for transcription by RNA polymerase I. We demonstrate that TFIIH associates with the rDNA promoter and gene...

The association of ectrodactyly (lobster claw deformity or cleft of the hands and feet) and dacrocystitis was first reported by Cockayne in 19361, It was, however, Rudiger and others2 who stressed the association of atypical ectodermal dysplasia with ectrodactyly and cleft lip and palate and suggested the name EEC -syndrome, This is a rare congenital syndrome which shows both a familial autosom...