A second locus for Rieger syndrome maps to chromosome 13q14.
Rieger syndrome is a genetically and phenotypically heterogeneous disorder typically characterized by malformations of the eyes, teeth, and umbilicus. The syndrome is inherited as an autosomal dominant trait and exhibits significant variable expressivity. One locus associated with this disorder has been mapped to 4q25. Using a large four-generation pedigree, we have identified a second locus for Rieger syndrome located on chromosome 13q14.
Phillips
J C
JC
Department of Ophthalmology, New England Medical Center, Boston MA 02111, USA.
del Bono
E A
EA
Haines
J L
JL
Pralea
A M
AM
Cohen
J S
JS
Greff
L J
LJ
Wiggs
J L
JL
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D005124:Eye Abnormalities / Q000235:genetics; D015785:Eye Diseases, Hereditary / Q000235:genetics*; D005799:Genes, Dominant / Q000235:genetics; D005901:Glaucoma / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics; D014472:Umbilicus / Q000002:abnormalities