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)

X-linked mental retardation (XLMR) includes distinct entities in which mental deficiency is either associated with specific abnormalities (syndromal) or not (nonsyndromal). We report on the clinical, neuropsychological, and laboratory findings and linkage analysis in one family with XLMR and isolated growth hormone deficiency (IGHD). Mental retardation was associated in 3 males and 5 females with short stature, microcephaly, and particular facial traits, i.e., high curved forehead, midface hypoplasia, and concave nasal bridge with nasal end of normal size and broad traits. Significant lod scores (Zmax >2) at a recombination fraction of theta = 0 were detected for 6 marker loci between DXS178 (Xq22.1) and DXS292 (Xq27.2). This mapping region overlaps that of XLMR with IGHD, recently reported by Hamel et al. [1996: Am J Med Genet 64:35-41] (Xq24-q27.3), and that of agammaglobulinemia with IGHD (Xq21.33-q22.2). This observation may confirm the suspicion of a gene involved in growth hormone regulation being localized in Xq.
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PMID:X-linked mental retardation with isolated growth hormone deficiency is mapped to Xq22-Xq27.2 in one family. 950 46

We report a 10-year-old boy with chronic enteroviral meningitis associated with agammaglobulinemia (CEMA) and hydrocephalus. He was treated with a low-dose intravenous administration (100 mg/kg/4 weeks) of gammaglobulin (gamma-gl) since he was diagnosed as having Bruton type agammaglobulinemia at 1 year of age. At this admission, neurological examination revealed meningeal signs, Babinski sign, frontal signs, urinary incontinence, and mental retardation (IQ = 48) which was considered to be a sequela of the enteroviral encephalitis which had occurred in his first year of life. T 1-weighted MR imaging of the brain following gadolinium administration revealed a marked dilatation of the lateral ventricles and dense enhancement of the meninges. Enterovirus was detected in the cerebrospinal fluid (CSF) using tissue culture. Histological examination of a biopsied leptomeningeal specimen revealed inflammatory thickening, which was a likely cause of the obstruction to the flow of CSF. The hydrocephalus in this patient was treated with external drainage of CSF from the lateral ventricle. The CEMA was brought into remission by means of the intraventricular administration of gamma-gl, at a dose of 125-250 mg/week (total dose: 1.5 g/8 weeks), in addition to the high dose intravenous administration (400 mg/kg/4 weeks) of gamma-gl. Because of the poor prognosis of patients with CEMA, the intraventricular administration of gamma-gl should be initiated immediately following a diagnosis of enteroviral meningitis.
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PMID:[A case of chronic enteroviral meningitis and hydrocephalus associated with Bruton type agammaglobulinemia]. 951 11

Immunodeficiency, Centromeric region instability, Facial anomalies (ICF; OMIM #242860) syndrome, due to mutations in the DNMT3B gene, is characterized by inheritance of aberrant patterns of DNA methylation and heterochromatin defects. Patients show variable agammaglobulinemia and a reduced number of T cells, making them prone to infections and death before adulthood. Other variable symptoms include facial dysmorphism, growth and mental retardation. Despite the recent advances in identifying the dysregulated genes, the molecular mechanisms, which underlie the altered gene expression causing ICF phenotype complexity, are not well understood. Held the recently-shown tight correlation between epigenetics and microRNAs (miRNAs), we searched for miRNAs regulated by DNMT3B activity, comparing cell lines from ICF patients with those from healthy individuals. We observe that eighty-nine miRNAs, some of which involved in immune function, development and neurogenesis, are dysregulated in ICF (LCLs) compared to wild-type cells. Significant DNA hypomethylation of miRNA CpG islands was not observed in cases of miRNA up-regulation in ICF cells, suggesting a more subtle effect of DNMT3B deficiency on their regulation; however, a modification of histone marks, especially H3K27 and H3K4 trimethylation, and H4 acetylation, was observed concomitantly with changes in microRNA expression. Functional correlation between miRNA and mRNA expression of their targets allow us to suppose a regulation either at mRNA level or at protein level. These results provide a better understanding of how DNA methylation and histone code interact to regulate the class of microRNA genes and enable us to predict molecular events possibly contributing to ICF condition.
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PMID:Epigenetic alteration of microRNAs in DNMT3B-mutated patients of ICF syndrome. 2044 64