Evidence for genetic anticipation in the oculodentodigital syndrome.
Oculodentodigital syndrome (O.D.) is an autosomal dominant disorder comprising facial anomalies, syndactyly, microcorneae, dental enamel hypoplasia, and leukodystrophy. We describe a four generation family with O.D. in which anomalies such as syndactyly appear congenitally, whereas neurological (i.e., leukodystrophic) signs and symptoms tend to be expressed in a more severe form and/or at an earlier age of onset in successive generations of the kindred. This pattern of phenotypic expression is consistent with the phenomenon of genetic anticipation, and we suggest that O.D. may be a trinucleotide repeat disorder.
Shapiro
R E
RE
Department of Neurology, The Johns Hopkins School of Medicine, Baltimore, Maryland 21205, USA. robert_shapiro@qmail.bs.jhu.edu
Griffin
J W
JW
Stine
O C
OC
D000015:Abnormalities, Multiple / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D000328:Adult; D017668:Age of Onset; D005124:Eye Abnormalities / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D008297:Male; D009422:Nervous System Diseases / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology; D009666:Nose / Q000002:abnormalities; D010375:Pedigree; D013576:Syndactyly / Q000235:genetics; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics; D018911:Trinucleotide Repeats