Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8

被引：0

作者：

H.-J. Lüdecke

O. Schmidt

J. Nardmann

D. von Holtum

P. Meinecke

M. Muenke

B. Horsthemke

机构：

[1] Institut für Humangenetik,

[2] Universitätsklinikum,undefined

[3] 45122 Essen,undefined

[4] Germany,undefined

[5] Abteilung für Medizinische Genetik,undefined

[6] Altonaer Kinderkrankenhaus,undefined

[7] Hamburg Germany,undefined

[8] Division of Human Genetics and Molecular Biology,undefined

[9] The Children's Hospital of Philadelphia,undefined

[10] Pennsylvania,undefined

[11] USA,undefined

[12] Present address: Medical Genetics Branch,undefined

[13] National Human Genome Research Institute,undefined

[14] National Institutes of Health,undefined

[15] Bethesda,undefined

[16] Md.,undefined

[17] USA,undefined

来源：

Human Genetics | 1999年 / 105卷 / 6期

关键词：

D O I：

10.1007/s004399900176

中图分类号：

学科分类号：

摘要：

The tricho-rhino-phalangeal syndrome type II (TRPS II, or Langer-Giedion syndrome) is an example of contiguous gene syndromes, as it comprises the clinical features of two autosomal dominant diseases, TRPS I and a form of multiple cartilaginous exostoses caused by mutations in the EXT1 gene. We have constructed a contig of cosmid, λ-phage, PAC, and YAC clones, which covers the entire TRPS I critical region. Using these clones we identified a novel submicroscopic deletion in a TRPS I patient and refined the proximal border of the minimal TRPS1 gene region by precisely mapping the inversion breakpoint of another patient. As a first step towards a complete inventory of genes in the Langer-Giedion syndrome chromosome region (LGCR) with the ultimate aim to identify the TRPS1 gene, we analyzed 23 human expressed sequence tags (ESTs) and four genes (EIF3S3, RAD21, OPG, CXIV) which had been assigned to human 8q24.1. Our analyses indicate that the LGCR is gene-poor, because none of the ESTs and genes map to the minimal TRPS1 gene region and only two of these genes, RAD21 and EIF3S3, are located within the shortest region of deletion overlap of TRPS II patients. Two genes, OPG and CXIV, which are deleted only in some patients with TRPS II may contribute to the clinical variability of this syndrome.

引用

页码：619 / 628

页数：9