Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH |
| |
Authors: | R. Caselli C. Speciale C. Pescucci V. Uliana K. Sampieri M. Bruttini I. Longo S. De Francesco T. Pramparo O. Zuffardi R. Frezzotti A. Acquaviva T. Hadjistilianou A. Renieri F. Mari |
| |
Affiliation: | (1) Medical Genetics, Department of Molecular Biology, University of Siena, Policlinico Le Scotte, V.le Bracci 2, 53100 Siena, Italy;(2) Biologia Generale e Genetica Medica, University of Pavia, Pavia, Italy;(3) Department of Ophthalmology, University of Siena, Siena, Italy;(4) Department of Pediatrics, University of Siena, Siena, Italy;(5) Department of Ophthalmology, Retinoblastoma Referral Center, Siena, Italy |
| |
Abstract: | We describe three patients with retinoblastoma, dysmorphic features and developmental delay. Patients 1 and 2 have high and broad forehead, deeply grooved philtrum, thick anteverted lobes and thick helix. Patient 1 also has dolicocephaly, sacral pit/dimple and toe crowding; patient 2 shows intrauterine growth retardation and short fifth toe. Both patients have partial agenesis of corpus callosum. Patient 3 has growth retardation, microcephaly, thick lower lip and micrognathia. Using array-comparative genomic hybridization (CGH), we identified a 13q14 de novo deletion in patients 1 and 2, while patient 3 had a 7q11.21 maternally inherited deletion, probably not related to the disease. Our results confirm that a distinct facial phenotype is related to a 13q14 deletion. Patients with retinoblastoma and malformations without a peculiar facial phenotype may have a different deletion syndrome or a casual association of mental retardation and retinoblastoma. Using array-CGH, we defined a critical region for mental retardation and dysmorphic features. We compared this deletion with a smaller one in a patient with retinoblastoma (case 4) and identified two distinct critical regions, containing 30 genes. Four genes appear to be good functional candidates for the neurological phenotype: NUFIP1 (nuclear fragile X mental retardation protein 1), HTR2A (serotonin receptor 2A), PCDH8 (prothocaderin 8) and PCDH17 (prothocaderin 17). |
| |
Keywords: | 13q14 deletion syndrome Developmental delay Mental retardation Retinoblastoma Array-CGH |
本文献已被 PubMed SpringerLink 等数据库收录! |
|