Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The ATR-X syndrome is an X-linked disorder comprising severe psychomotor retardation, characteristic facial features, genital abnormalities, and alpha-thalassemia. We have shown that ATR-X results from diverse mutations of XH2, a member of a subgroup of the helicase superfamily that includes proteins involved in a wide range of cellular functions, including DNA recombination and repair (RAD16, RAD54, and ERCC6) and regulation of transcription (SW12/SNF2, MOT1, and brahma). The complex ATR-X phenotype suggests that XH2, when mutated, down-regulates expression of several genes, including the alpha-globin genes, indicating that it could be a global transcriptional regulator. In addition to its role in the ATR-X syndrome, XH2 may be a good candidate for other forms of X-linked mental retardation mapping to Xq13.
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PMID:Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). 769 14

Cockayne's syndrome is a rare, autosomal recessive condition which usually presents in early childhood, and is characterised by dwarfism, premature ageing, mental retardation and a typical facial appearance and body habitus. Retinal dystrophy, enophthalmos, strabismus, cataract, nystagmus and corneal opacities are associated ocular features. At a genetic level, a defect occurs in the pathway for the repair of transcriptionally active DNA, and the most common form of Cockayne's is associated with mutations in the human repair gene ERCC6. These patients pose a difficult management problem. A significant proportion will require cataract extraction at an early age, which may present technical difficulties due to enophthalmos, which is a constant finding, poor pupillary dilation and growth retardation. Also, the fitting and assessment of aphakic contact lenses during the post-operative period requires great skill. General anaesthesia in these patients may be hazardous. In particular, difficulty with endotracheal intubation should be anticipated. Two patients with Cockayne's syndrome requiring bilateral cataract extraction in early infancy are presented. The problems associated with surgery, anaesthesia and subsequent follow-up in these mentally retarded infants are discussed.
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PMID:Ophthalmic management of Cockayne's syndrome. 876 5

Cockayne s syndrome is a genetic disorder with a recessive autosomal inheritance, described first by Cockayne in 1936. Patients with this syndrome present failure to thrive, short stature, premature aging, neurological alterations, photosensitivity, delayed eruption of the primary teeth, congenitally absent of some permanent teeth, partial macrodontia, atrophy of the alveolar process and caries. It could be caused by two gene mutations, CNK1 (ERCC8) and ERCC6, located on the 5 and 10 chromosomes respectively, causing two variations of Cockayne s syndrome, CS-A, secondary to a ERCC8 mutation and CS-B with ERCC6 mutation, the last one causes hypersensitivity to the ultraviolet light secondary to a DNA repair defect. The syndrome is also associated with mutations of the XPB, XPD and XPG genes. In this report we present a 9 year and 4 month old patient. He had a height of 94 cm, weight of 8.6 Kg, head circumference of 42 cm. and blood pressure of 120/80. Cachectic habitus, kyphosis, microcephaly, oval face, sunken eyes, a thin and beaklike nose, lack of subcutaneous facial fat (especially in the middle of the face), and large ears give the patient a birdlike appearance. It is notorious the photosensitivity in all the sun-exposed skin. The patient also displays delayed psychomotor skills and mental retardation. In the oral cavity we found deficient hygiene, gingivitis, cervical caries, enamel hipoplasia, abnormal position of the upper and inferior lateral incisors, macrodontia of the upper central teeth, the left one presented a caries. In the x-ray we observed congenital absence of 14, 23 and 24 teeth and mandibular hipoplasia. The aim of this review is to show the dentistry community the characteristics of the Cockayne s syndrome by means of a clinical case.
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PMID:Cockayne's syndrome: a case report. Literature review. 1664 59

Back Cockayne syndrome (CS; MIM 133540-216400) is a rare autosomal recessive neurodegenerative disorder characterized by progressive growth failure, microcephaly, mental retardation, retinal pigmentary degeneration, deafness, photosensitivity, accelerated systemic degeneration of somatic tissue, and premature death. Complementation assays have defined Cockayne syndrome group A (CSA) and Cockayne syndrome group B (CSB), caused by mutations in ERCC8 and ERCC6. The aim of this work was to perform a molecular analysis in a family with an affected son, who died at the age of 12, presenting clinical features typical of CSA. Molecular analysis of ERCC8 allowed us to characterize two novel mutations: a maternally inherited deletion encompassing exons 5 and 6, and a nonsense mutation located in exon 4, segregating from the father. Based on this molecular characterization, we successively performed a prenatal diagnosis on chorionic villus sampling, at 11th week of pregnancy. Molecular prenatal analysis of the ERCC8 was done by analyzing fetal DNA and RNA, looking for both mutations identified in the proband. A linkage analysis was performed using microsatellite markers located on chromosome 5q11 with the purpose to follow the segregation of the mutated alleles within the family. The fetal genotype at CSA locus resulted wild type and was confirmed at birth on biological material isolated from placenta. This study documents for the first time a molecular prenatal diagnosis of CSA, which results in the preferred approach if the mutation within the family is identified in a timely manner.
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PMID:Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene. 1930 86