Naslov
Rieger syndrome can be caused by haploinsufficiency of RIEG, but also by chromosome breaks at a distance of 70 kpb from this gene

Autori
Flomen, Rachel H. ; Vatcheva, Radost ; Gorman, Patricia A. ; Baptista, Pedro R. ; Groet, Juergen ; Barišić, Ingeborg ; Ligutić, Ivo ; Nižetić, Dean

Izvornik
Medizinische Genetik (0936-5931) 9 (1997), 2;

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, kongresno priopcenje, znanstveni

Ključne riječi
Rieger Syndrome; RIEG; chromosome 4

Sažetak
Rieger syndrome (RIEG) is and autosomal dominant disorder showing genetic heterogeneity, phonotypically recognised by characteristic malformations of the anterior segment of the eye, dental hypoplasia and failure of the periumbilical skin to involute. The main locus for RIEG has been mapped to the 4p25-q27 chromosomal segment by a series of cytogenetic abnormalities as well as by genetic linkage to DNA markers. Recently, a bicoid-related homeobox transcription factor gene called RIEG has been cloned, characterized and proven to be causing he 4q25 linked RIEG. Its mode of action in the pathogenesis of RIEG remained unclear since most ethiological mutations detected in the RIEG sequence caused amino-acid substitutions or splice changes in the homeodomain. Through FISH analysis of a 0.5 Mbp PYC contig around RIEG, we demonstrate that 4q25 linked RIEG disorder can arise form the haploid, whole-gene deletion of RIEG, but also from a translocation break at a distance of 70 kbp from the gene. The data are consistent with physical or functional haploinsufficiency of RIEG as the pathogenic mechanism.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA