Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location

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, cafè au lait skin (CALS) spots and...

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Published in:Clinical genetics Vol. 76; no. 3; pp. 256 - 262
Main Authors: 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, A, Angioni, A
Format: Journal Article
Language:English
Published: Oxford, UK Blackwell Publishing Ltd 01-09-2009
Wiley-Blackwell
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Summary: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, cafè 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.
Bibliography:istex:D5042134F81A9D9291BB35FEF807208E28D67310
ArticleID:CGE1203
ark:/67375/WNG-C3XP5S2J-D
The first two authors should be regarded as joint first authors.
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ISSN:0009-9163
1399-0004
DOI:10.1111/j.1399-0004.2009.01203.x