Disease relevance of Mental Retardation, X-Linked

• Coffin-Lowry Syndrome (CLS) is an X-linked mental retardation condition associated with skeletal abnormalities [1].
• Fragile X syndrome is an X-linked mental retardation condition that usually is due to a trinucleotide-repeat expansion in the FMR1 gene [2].
• ATRX syndrome is characterized by X-linked mental retardation associated with alpha-thalassemia [3].
• These observations and the well-established knowledge that the genes for Deutan and Protan colorblindness are closely linked to G6PD, but segregate independently of factor IX deficiency, suggest that the fragile site associated with this type of X-linked mental retardation occurs in a region prone to high frequency of meiotic recombination [4].
• It interacts with protein Ser/Thr phosphatase-1 (PP1) and with the polyglutamine-tract-binding protein 1 (PQBP1), which contributes to the pathogenesis of X-linked mental retardation and neurodegenerative diseases caused by polyglutamine tract expansions [5].

Psychiatry related information on Mental Retardation, X-Linked

• A family with X-linked mental retardation characterized by severe mental retardation, speech and behavioral abnormalities, and seizures in affected male patients has been found to have a G1141C transversion in the creatine-transporter gene SLC6A8 [6].
• In contrast to the preponderance of affected males in families with X-linked mental retardation, Rett syndrome (RTT) is a neurological disorder occurring almost exclusively in females [7].
• Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation [8].

High impact information on Mental Retardation, X-Linked

• Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation [9].
• We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR) [9].
• FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation [10].
• Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy [11].
• Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation [12].

Chemical compound and disease context of Mental Retardation, X-Linked

• Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation [13].
• A novel X-linked mental retardation (XLMR) syndrome was recently identified, resulting from creatine deficiency in the brain caused by mutations in the creatine transporter gene, SLC6A8 [14].
• FRAXA, FRAXE, and FRAXF are folate-sensitive fragile sites originally discovered in patients with X-linked mental retardation [15].
• 5-Fluoro-2'-deoxyuridine induction of the fragile site on Xq28 associated with X linked mental retardation [16].
• Mutations in the non-ion channel genes, leucine-rich, glioma inactivated 1 gene and Aristaless related homeobox gene, have emerged as important causes of their specific syndromes, with mutations in the latter gene frequently underlying X-linked mental retardation with epilepsy [17].

Biological context of Mental Retardation, X-Linked

• Here we report the first established pregnancies using this procedure, in two couples known to be at risk of transmitting adrenoleukodystrophy and X-linked mental retardation [18].
• The X-linked mental retardation protein oligophrenin-1 is required for dendritic spine morphogenesis [19].
• Mutations in genes encoding chromatin-remodeling proteins, such as the ATRX gene, underlie a number of genetic disorders including several X-linked mental retardation syndromes; however, the role of these proteins in normal CNS development is unknown [20].
• We report a unique mutation in the renin receptor gene (ATP6AP2) present in patients with X-linked mental retardation and epilepsy (OMIM no. 300423), but absent in 1200 control X-chromosomes [21].
• The phenotype of the patient and the expression of SOX3 gene in neuronal tissues raises the possibility that this gene is a candidate gene for Borjeson-Forssman-Lehmann, an X-linked mental retardation syndrome [22].

Anatomical context of Mental Retardation, X-Linked

• ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation [23].
• We have constructed interspecific somatic cell hybrids between a thymidine-auxotrophic mutant cell line of mouse FM3A cells that lacks thymidylate synthase and human diploid fibroblasts derived from a male patient with fragile X-linked mental retardation [24].

Gene context of Mental Retardation, X-Linked

• PAK3 mutation in nonsyndromic X-linked mental retardation [25].
• High prevalence of SLC6A8 deficiency in X-linked mental retardation [14].
• These findings confirm CDKL5 as another locus associated with epilepsy and X-linked mental retardation [26].
• MECP2 is highly mutated in X-linked mental retardation [27].
• Localisation of the MRX3 gene for non-specific X linked mental retardation [28].

Analytical, diagnostic and therapeutic context of Mental Retardation, X-Linked

• Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity [29].

References