1/10. cockayne syndrome.We report four cases of cockayne syndrome in a family of seven children. Apart from the usual clinical and laboratory features, sparse eye lashes and high arched palate in two patients, conjunctival and corneal edema in one, and proximal muscle weakness in one patient were noticed as additional findings.- - - - - - - - - - ranking = 1keywords = family (Clic here for more details about this article) |
2/10. cockayne syndrome in a family.cockayne syndrome is one of the families of rare progeroid syndromes. We report on two female siblings suffering from cockayne syndrome. At birth, they both appeared normal, although both demonstrated a low birth weight and breech presentation. The first-born child died at the age of eight months with associated contracted limbs, brain calcification, and photosensitivity. The younger sibling exhibited short stature, microcephaly, a beaked nose and malformed ears, spasticity, photosensitivity, pigmented degeneration of the retina, and psychomotor retardation at the age of six years. Intracranial calcification and the absence of a brain stem-evoked potential were also noted. Testing her skin fibroblasts, which showed a moderate UV sensitivity and a severe deficiency of transcription-coupled repair established the diagnosis of Cockayne syndrome. genetic counseling was offered for the family.- - - - - - - - - - ranking = 5keywords = family (Clic here for more details about this article) |
3/10. cockayne syndrome: review of 140 cases.To define diagnostic criteria for cockayne syndrome (CS) and to identify in detail the complications of the condition, a comprehensive review of 140 cases of CS was performed. Criteria required for the diagnosis include poor growth and neurologic abnormality; other very common manifestations include sensorineural hearing loss, cataracts, pigmentary retinopathy, cutaneous photosensitivity, and dental caries. The mean age of death in reported cases is 12 3/12 years, though a few affected individuals have lived into their late teens and twenties. Prenatal growth failure, congenital structural eye anomalies, severe neurologic dysfunction from birth, and the presence of cataracts within the first 3 years of life are predictors of severe disease and early death. In contrast with other disorders of chromosome or dna repair, cancer has never been reported in a classical CS patient, and there appears to be no predisposition to infectious complications. The wide spectrum of symptoms and severity of the disease suggest that biochemical and genetic heterogeneity exist. CS is an uncommon but devastating genetic condition which will be better understood as the biochemical interrelationships between dna replication and repair, and between growth, homeostasis, and oncogenesis are unraveled.- - - - - - - - - - ranking = 0.0032734338258954keywords = life (Clic here for more details about this article) |
4/10. A kindred with cockayne syndrome caused by multiple splicing variants of the CSA gene.cockayne syndrome (CS) is an autosomal recessive disorder, which is associated with abnormal UV hypersensitivity, growth retardation, and psycho-neural abnormalities. Recently, CSA protein was found to be associated with CS. We obtained mRNAs from immortal lymphoblasts derived from members of the kindred, and sequenced the CSA gene of all family members after reverse transcription (RT) of the coding region. The intact length of the CSA transcript was found in all family members except the proband with CS. Multiple abnormal splicing variant forms were revealed in all cases. No mutation was found in the sequences of the splice donor and acceptor sites of each exon in the CSA gene. UVA irradiation suppressed cell growth in the proband. There was no significant alteration of UVA sensitivity among the normal control and the family members except for the proband. These data suggest that multiple splicing variant forms of CSA mRNA, in the absence of the full-length form of the mRNA, are associated with CS.- - - - - - - - - - ranking = 3keywords = family (Clic here for more details about this article) |
5/10. Severe form of cockayne syndrome with varying clinical presentation and no photosensitivity in a family.We report six patients with cockayne syndrome type B without photosensitivity. The patients are from the same inbred family and exhibit variable clinical features. The main clinical manifestations were progressive encephalopathy including intracranial calcification and white-matter lesions, dwarfism without growth hormone deficiency, senile appearance, mental and motor retardation, atrophy of subcutaneous fat tissue, severe pectus carinatus, and spasticity. Clinical photosensitivity was not observed in any patient. Other clinical findings were cataract, pigmentary retinopathy, and peripheral neuropathy. The onset of the disease was between 3 and 6 months of age. Molecular genetic analyses in the family established linkage to ERCC6, the gene responsible for cockayne syndrome type B, confirming the clinical diagnosis.- - - - - - - - - - ranking = 6keywords = family (Clic here for more details about this article) |
6/10. Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with cockayne syndrome.Defects in the xeroderma pigmentosum type B (XPB) gene (ERCC3), a DNA helicase involved in nucleotide excision repair (NER) and an essential subunit of the basal transcription factor, TFIIH, have been described in only three families. We report three new XPB families: one has two sisters with relatively mild xeroderma pigmentosum (XP) symptoms not previously associated with XPB mutations and two have severe XP/cockayne syndrome (CS) complex symptoms. All XP-B cells had reduced NER and post-ultraviolet (UV) cell viability. Surprisingly, cells from the milder XP sisters had the same missense mutation (c.296T>C, p.F99S) that was previously reported in two mild XP/CS complex brothers. These cells had higher levels of XPB protein than the severely affected XP/CS complex patients. An XPB expression vector with the p.F99S mutation partially complemented the NER defect in XP-B cells. The three severely affected XP/CS complex families all have the same splice acceptor site mutation (c.2218-6C>A, p.Q739insX42) in one allele. This resulted in alteration of 41 amino acids at the C terminus, producing partial NER complementation. This limited number of mutations probably reflects the very restricted range of alterations of this vital protein that are compatible with life. We found new mutations in the second allele yielding markedly truncated proteins in all five XP or XP/CS complex families: c.1273C>T, p.R425X; c.471 1G>A, p.K157insTSDSX; c.807-808delTT, p.F270X; c.1421-1422insA, p.D474EfsX475; and c.1633C>T, p.Q545X. The remarkable phenotypic heterogeneity of XPB is associated with partially active missense mutations in milder patients while severe XP/CS complex patients have nonsense mutations in both alleles with low levels of altered XPB proteins.- - - - - - - - - - ranking = 0.0032734338258954keywords = life (Clic here for more details about this article) |
7/10. Clinical and biochemical studies in three patients with severe early infantile cockayne syndrome.We present clinical and biochemical data from three patients with severe cockayne syndrome (CS) of very early onset. Unlike in classic CS, signs became evident in the first weeks of life and led to unusually early death. fibroblasts from two of the patients showed a complete defect of the repair of UV-induced thymine dimer lesions. They were unable to remove thymine dimer lesions from their DNA, had a severe reduction of the rna synthesis rates after UV irradiation, and showed no reactivation of an UV-inactivated indicator gene and no DNA recondensation after UV irradiation. dna repair investigated in these two fibroblast cell strains resembled that of xeroderma pigmentosum cells of complementation group A. In contrast, fibroblasts from the third patient showed the same in vitro repair characteristics as classic CS cells.- - - - - - - - - - ranking = 0.0032734338258954keywords = life (Clic here for more details about this article) |
8/10. cockayne syndrome: unusual neuropathological findings and review of the literature.Two siblings with cockayne syndrome (CS) are described and the literature on the subject is briefly reviewed. Of particular interest were the unusual neuropathological findings in 1 of the patients. These included microcephaly, white matter atrophy with patchy loss of myelinated fibers, calcifications of the basal ganglia, occasional ferrugination of cerebral and cerebellar neurons, and severe cerebellar degeneration. Findings not previously reported in CS were proliferation of extremely bizarre astrocytes, neurofibrillary tnagles, and pigmentation of the globus pallidus. We conclude that brain involvement in CS is a result of primary degeneration in the central nervous system rather than being secondary to angiopathy or normal pressure hydrocephalus, as previously suggested.- - - - - - - - - - ranking = 0.0032734338258954keywords = life (Clic here for more details about this article) |
9/10. cockayne syndrome with early onset of manifestations.The cockayne syndrome is an autosomal recessive syndrome of growth failure and characteristic physical and pathological changes. Typically the disorder becomes manifest in the second year of life; growth and development are normal during the first year. We report presumably monozygotic twins with otherwise classic cockayne syndrome but with a prenatal onset. Several previously described cases seem to represent a similar form of cockayne syndrome with early onset of growth failure and development delay.- - - - - - - - - - ranking = 0.0032734338258954keywords = life (Clic here for more details about this article) |
10/10. cataract in early onset and classic cockayne syndrome.PURPOSE: To describe cataracts in classic and early onset cockayne syndrome (CS). Classic CS typically has an onset after the first year of life; intrauterine growth failure and severe neurologic dysfunction from birth distinguishes the less common early onset CS from the classic form. methods: A complete ophthalmic evaluation was performed in four affected patients, one with the early onset and three with classic CS. RESULTS: We report cataract in all patients and glaucoma in one, the latter never previously reported in CS. CONCLUSION: CS should be considered in babies with low birth weight and congenital cataract.- - - - - - - - - - ranking = 0.0032734338258954keywords = life (Clic here for more details about this article) |
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