Bibliographic Citation
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| Title | Normal number of CGG repeats in the FMR-1 gene and abnormal incorporation of fibrillin into the extracellular matrix in Lujan Syndrome |
| Creator/Author | Greenhaw, G.A. ; Stone, C. ; Milewicz, D. [Univ. of Texas Health Science Center, Houston, TX (United States)] |
| Publication Date | 1994 Sep 01 |
| OSTI Identifier | OSTI ID: 133616 |
| Report Number(s) | CONF-941009-- |
| Other Number(s) | Journal ID: AJHGAG; ISSN 0002-9297; TRN: TRN: 95:005313-0346 |
| Resource Type | Journal Article |
| Resource Relation | Journal Name: American Journal of Human Genetics; Journal Volume: 55; Journal Issue: Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994 |
| Subject | 55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN X CHROMOSOME; GENETIC MAPPING; MENTAL DISORDERS; GENES; BRAIN; MORPHOLOGICAL CHANGES; PATIENTS; SENSE ORGANS DISEASES; KARYOTYPE; NUCLEOTIDES |
| Description/Abstract | Lujan syndrome is an X-linked condition that includes mild-to-moderate mental retardation, poor social integration, normal secondary sexual development with normal testicular size, generalized hypotonia, hypernasal voice and dolichostenomelia. Major cardiac complications and lens dislocation have not been reported although severe myopia may occur. All reported cases have had negative cytogenetic screening for fra(X) syndrome but establishing this constellation of findings as a distinctive entity has been difficult. We report 4 males in two sibships with clinical findings consistent with Lujan syndrome, normal karyotypes, negative cytogenetic screening for fra(X) syndrome and a normal number of CGG repeats in the FMR-1 gene. Dermal fibroblasts explanted from one of the affected males were used to study fibrillin synthesis secretion and extracellular matrix incorporation into microfibrils. Cells from the affected individual showed normal synthesis and secretion of fibrillin when compared to control cells, but the fibrillin was not incorporated into the extracellular matrix. These results suggest the presence of a gene on the X chromosome which may play a role in microfibril assembly and when deficient may disrupt the incorporation of fibrillin into microfibrils. This may be important not only in normal body morphogenesis but also in the development/function of the brain. More affected individuals are needed to investigate these findings further. |
| Country of Publication | United States |
| Language | English |
| Format | Medium: X; Size: pp. A82.454 |
| System Entry Date | 2008 Feb 04 |
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Last Updated: 11/19/2009