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)

Until recently, Bardet-Biedl syndrome was considered as a classic autosomal recessive condition. The disorder is defined by the association of the following clinical features: retinitis pigmentosa, polydactyly, obesity, hypogonadism, and possible mental retardation. This syndrome leads to multiple handicaps (visual impairment, complications of obesity, kidney failure, endocrine dysfunction). This condition, apparently clearly defined from a clinical point of view, appears to be genetically heterogenous. To date, six different genes have been identified: BBS1, BBS2, BBS4, BBS6, BBS7 and BBS8. Interestingly, this condition has recently been linked to a failure of cellular ciliogenesis. Moreover, this disorder is characterized by an additional degree of complexity, as it is the first example of triallelic inheritance described in human beings. However, this new finding appears to be less frequent than expected in this syndrome.
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PMID:[Update on Bardet-Biedl syndrome]. 1576 6

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by progressive retinal dystrophy, polydactyly, obesity, hypogonadism, mental retardation, and renal dysfunction. Other manifestations include diabetes mellitus, heart disease, hepatic fibrosis, neurological features, and multiple pigmented nevi. To date, twelve BBS genes have been cloned (BBS1-BBS12). Herein we discussed a patient with BBS who had multiple pigmented nevi.
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PMID:Bardet-Biedl syndrome: a case report. 1831 26

Bardet-Biedl syndrome (BBS) is an autosomal recessively inherited ciliopathy mainly characterized by rod-cone dystrophy, postaxial polydactyly, obesity, renal tract anomalies, and hypogonadism. To date, 14 BBS genes, BBS1 to BBS14, have been identified, accounting for over 75% of mutations in BBS families. In this study, we present a consanguineous family from Pakistan with postaxial polydactyly and late-onset retinal dysfunction. Adult affected individuals did not show any renal or genital anomalies, obesity, mental retardation or learning difficulties and did thus not fulfill the proposed clinical diagnostic criteria for BBS. We mapped the disease in this family to the BBS12 locus on chromosome 4q27 and identified the novel homozygous p.S701X nonsense mutation in BBS12 in all three affected individuals of this family. We conclude that BBS12 mutations might cause a very mild phenotype, which is clinically not diagnosed by the current diagnostic criteria for BBS. Consequently, we suggest the use of less strict diagnostic criteria in familial BBS families with mild phenotypic expression.
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PMID:A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies. 2064 43

Bardet-Biedl Syndrome (BBS) is a rarely seen autosomal recessive transfer disease characterised by retinal dystrophy, obesity, extremity deformities, mental retardation, and renal and genital system anomalies. BBS shows heterogenic transfer. To date, 18 genes (BBS1-18) and 7 BBS proteins have been defined as related to BBS. All of the defined BBS genes have been shown to be related to the biogenesis or function of cilia. Renal failure accompanying the syndrome, especially in the advanced stages, is the most common cause of mortality. Therefore, as one of the major diagnostic criteria, renal damage is of great importance in early diagnosis. This paper presents the cases of two brothers with BBS who presented with chronic renal failure.
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PMID:Two brothers with bardet-biedl syndrome presenting with chronic renal failure. 2596 Aug 97


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