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Abstract #25530 Published in IGR 12-1
Two adults with Rubinstein-Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers
Wieczorek D; Bartsch O; Lechno S; Kohlhase J; Peters D J M; Dauwerse H; Gillessen-Kaesbach G; Hennekam R C M; Passarge EAmerican Journal of Medical Genetics, Part A 2009; 149: 2849-2854
The Rubinstein-Taybi syndrome (RTS;OMIM 180849) is a well-defined mental retardation/multiple congenital anomalies (MR/ MCA) syndrome characterized by postnatal growth retardation, microcephaly, specific facial features, broad thumbs and halluces, and MR of variable degree. Ten percent of patients with RTS have a microdeletion 16p13.3, 40-50% carry a mutation of the CREBBP gene and another 3% have a mutation in the EP300 gene. In the remaining patients with clinically suspected RTS no mutation can be detected. Here we describe two patients with an RTS phenotype, one with a mutation in the CREBBPgene and the other without a detectable CREBBP or EP300 mutation and without a chromosomal imbalance on high-resolution arrays. Both patients present with the characteristic facial RTS phenotype, broad thumbs and big toes, mild MR, formation of keloids and glaucoma, but without postnatal growth retardation or microcephaly. In addition, they have both congenital camptodactyly of third (and fourth) fingers, which has not reported in RTS previously.Wesuggest that they represent a clinical subtype of RTS.
D. Wieczorek. Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstr. 55, 45122 Essen, Germany. dagmar.wieczorek@uni-due.de
Classification:
9.4.15 Glaucoma in relation to systemic disease (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
