Disease relevance of LGCR

• The tricho-rhino-phalangeal syndromes type I (TRPS I) and type II (TRPS II) result from the deletion of overlapping sets of genes within the Langer-Giedion syndrome chromosomal region (LGCR) on chromosome 8 [1].
• Chromosome analysis by high-resolution banding with 850 bands revealed the same abnormal karyotype, 46,XY or XX,del(8)(q23.3q24.13), which was the smallest deletion among those of LGS patients with 8q deletion [2].
• Osteochondroma most frequently arises sporadically and as a solitary lesion, but may also arise as multiple lesions characterizing the autosomal dominant disorder hereditary multiple exostoses (HME) and the contiguous gene-deletion syndrome, Langer-Giedion syndrome (LGS) [3].
• In patients with LGS and intracanalar osteochondroma, the neurological deficit may be masked by mental retardation [4].
• Those groups exhibiting little or no cognitive impairment included FSHD, LGS, BMD, SMA, and HMSN [5].

Psychiatry related information on LGCR

• The data obtained are useful for defining the location of the putative mental retardation gene(s) in TRPS1 and Langer-Giedion syndrome (TRPS2), as well as a locus for postaxial polydactyly [6].

High impact information on LGCR

• The Langer-Giedion syndrome (LGS), which is characterized by craniofacial dysmorphism and skeletal abnormalities, is caused by a genetic defect in 8q24 [7].
• Previously, linkage analysis has revealed a locus for EXT in the LGS region on chromosome 8q24 [8].
• When the intrinsic fluorescences of tryptophans were monitored upon bindings of chloride and metal ions without any effect on the oligomeric state, the pattern of quenching in LGS was significantly different from that of SGS [9].
• Using three LGCR microsatellite markers, we determined the parental origin of this TRPS I deletion and of eight TRPS II deletions [1].
• Chromosome analysis of amniocytes and maternal peripheral blood cells showed an interstitial deletion of (8)(q24.13q24.22), which is distal to the region associated with Langer-Giedion syndrome (LGS) or trichorhinophalangeal (TRP) syndrome [10].

Biological context of LGCR

• Critical cytogenetic (re)evaluation of 2 of our own cases of tricho-rhino-phalangeal syndrome II (TRP II), or Langer-Giedion syndrome (LGS), and 10 cases from the literature, suggests that the shortest region of overlap of the 8q deletion is a part of band q24 [11].
• In an effort to determine the presence and frequency of submicroscopic deletions, molecular cytogenetic studies were performed on this same set of tumors utilizing a chromosome 8 specific centromeric probe and an 8q24.1 cosmid probe (locus D8S51, within the minimal LGS deletion region) [3].
• The comparative analysis with other 8q monosomic cases suggests the existence of at least two distinct syndromes: one due to the monosomy of a part of the segment 8q22----q24, clinically manifested as the LGS, and the other to the deletion of the band 8q21 [12].

Associations of LGCR with chemical compounds

• We report new measurements of dielectric properties of Lanthanum gallium silicate (Langasite or LGS) conducted with the whispering-gallery mode technique at microwave frequencies and between 4.2 K and 300 K [13].

Analytical, diagnostic and therapeutic context of LGCR

• 1. We have used 13 anonymous DNA markers from an 8q24.1-specific microdissection library, as well as c-myc and thyroglobulin gene probes, to map the deletion breakpoints in 16 patients with LGS [7].
• A community programme organized by the Bangladesh Rural Advancement Committee (BRAC) has visited over a third of all the households in Bangladesh and taught the preparation and use of an oral rehydration solution made from lobon (common salt) and gur (unrefined sugar)--abbreviated to LGS [14].
• The importance of EEG and clinical followups in patients with the WS for early detection of other associated forms of epilepsy, particularly the LGS, is therefore emphasized [15].

References