Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location
| Autor: | Cecilia Surace, Mc Roberti, Mc Digilio, Rossella Capolino, S Piazzolla, Stefano Petrocchi, Adriano Angioni, Antonietta Lombardo, Ac Tomaiuolo, Pietro Sirleto, M El Hachem, Gemma D'Elia, Antonella Sgura, D Claps Sepulveda |
|---|---|
| Přispěvatelé: | Surace, C, Piazzolla, S, Sirleto, P, Digilio, Mc, Roberti, Mc, Lombardo, A, D'Elia, G, Tomaiuolo, Ac, Petrocchi, S, Capolino, R, EL HACHEM, M, CLAPS SEPULVEDA, D, Sgura, Antonella, Angioni, A. |
| Jazyk: | angličtina |
| Rok vydání: | 2009 |
| Předmět: |
Adult
Male Adolescent Ring chromosome Locus (genetics) Biology telomere position effect FISH Genetics medicine Humans Abnormalities Multiple Ring Chromosomes chromosome ring Child Genetics (clinical) In Situ Hybridization Fluorescence Bacterial artificial chromosome medicine.diagnostic_test Physical Chromosome Mapping Infant Newborn Chromosome Facies Infant Chromosome Breakage Syndrome Phenotype Child Preschool Karyotyping Female Chromosome breakage Haploinsufficiency Fluorescence in situ hybridization Chromosomes Human Pair 17 |
| Popis: | Ring 17 syndrome is a rare disorder with clinical features influenced by the presence or deletion of the Miller–Dieker critical region (MDCR). Presence of the MDCR is associated with a mild phenotype, including growth delay (GD), mental retardation (MR), seizures, caf`e au lait skin (CALS) spots and minor facial dysmorphisms. Previous studies have been mainly focused on this locus providing poor information about the role of other genes located on the p- and q-arms. Here, we used bacterial artificial chromosome (BAC)/P1 artificial chromosome (PAC) and fosmid clones as fluorescence in situ hybridization (FISH) probes to perform a cyto-molecular analysis of a ring 17 case and found that the breakpoints were close to the telomeric ends. METRNL is the sole gene located on the q-arm terminal end, whereas two open reading frames and the RPH3AL gene are located on the terminal p-arm. To detect possibly unrevealed small deletions involving the transcription units, we used subcloned FISH probes obtained by long-range polymerase chain reaction (PCR), which showed that the investigated regions were preserved. Comparing our findings with other reports, it emerges that different breakpoints, involving (or not) large genomic deletions, present overlapping clinical aspects. In conclusion, our data suggest that a mechanism based on gene expression control besides haploinsufficiency should be considered to explain the common phenotypic features found in the mild ring 17 syndrome. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|