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 chromosome-16 and the X-chromosome forms of alpha-thalassemia--ATR-16 and ATR-X--exemplify 2 important causes of syndromal mental retardation. ATR-16 is a contiguous gene syndrome which arises from loss of DNA from the tip of chromosome 16p13.3 by truncation, interstitial deletion, or unbalanced translocation. It provided the first example of a chromosome translocation that could be detected by molecular analysis but not conventional cytogenetics. It also provided the first example of a telomeric truncation giving rise to a complex genetic syndrome. In contrast ATR-X appears to be due to mutations in a trans-acting factor that regulates gene expression. Mutations in transcription factors have recently been identified in a number of genetic diseases (for example, Denys-Drash syndrome, WT1 [19]; pituitary dwarfism, PIT1 [16]; Rubinstein-Taybi syndrome, CBP [20]. Not only is this mechanism proving to be an important cause of complex syndromes but it is providing new perspectives on certain developmental pathways. XH2 may not be a classical transcription factor but it is certainly involved in the regulation of gene expression, exerting its effects on several different genes. It seems likely that other mutations in this class of regulatory proteins will be found in patients with complex disorders including mental retardation. In broader terms the 2 mechanisms described here may prove to be responsible for a significant proportion of mental retardation. However, without a feature such as alpha-thalassemia to pinpoint the area of genome or pathways involved it may prove difficult to identify other, similarly affected genes underlying other forms of mental retardation. As the human genome project and rapid genome analysis evolve this problem should become less of an obstacle. In the meantime, it is very worthwhile to continue looking for unusual clinical associations that may point to critical genes underlying human genetic disorders.
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PMID:The alpha-thalassemia/mental retardation syndromes. 860 26

Dwarfism is a condition of extreme short stature. Total hip arthroplasty (THA) in patients with dwarfism is a very demanding procedure due to their specific joint deformity and small bone size, which increases the technical difficulty of the THA procedure in such patients with hip dysplasia. This current case report describes a 29-year-old female patient that was admitted due to shortening of the right lower limb, as compared with the contralateral side, which had been present for 18 years. She also complained of pain in the right hip that had been present for 2 months. The hip pain was aggravated by physical exertion, but relieved by rest. She had pituitary dwarfism without mental retardation or delayed sexual development and Crowe type IV dysplasia of the right hip. A THA combined with femoral shortening osteotomy was undertaken, which resolved the pain symptoms and improved her ability to undertake activities of daily living such as walking without pain. Dwarfism with hip dysplasia is a rare but extremely challenging problem that can be successfully treated with THA combined with femoral shortening osteotomy using an S-ROM stem.
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PMID:Total hip arthroplasty combined with subtrochanteric shortening osteotomy for Crowe type IV hip dysplasia in dwarfism: a case report. 3236 49