Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions
| Autor: | Joris Andrieux, M-C de Blois, Sabine Quief, Stanislas Lyonnet, Christophe Roumier, Michel Vekemans, Brigitte Benzacken, Pierre Bitoun, J-P Kerckaert, S Geffroy, Bruno Delobel, H. De Leersnyder, Tania Attié-Bitach, Sophie Thomas, C. Villenet, Sylvie Manouvrier, S Lignon |
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| Rok vydání: | 2007 |
| Předmět: |
Candidate gene
Genotype Locus (genetics) Biology Congenital Abnormalities Intellectual Disability Genetics medicine Humans Genetics (clinical) Chromosomal Deletion Oligonucleotide Array Sequence Analysis Sequence Deletion Ubiquitin B Mental Disorders Chromosome Mapping Nucleic Acid Hybridization Smith–Magenis syndrome medicine.disease Cleft Palate Chromosome 17 (human) Phenotype Trans-Activators Haploinsufficiency Letter to JMG Chromosomes Human Pair 17 Transcription Factors |
| Zdroj: | Journal of Medical Genetics. 44:537-540 |
| ISSN: | 1468-6244 |
| Popis: | Smith-Magenis syndrome (SMS) is rare (prevalence 1 in 25 000) and is associated with psychomotor delay, a particular behavioural pattern and congenital anomalies. SMS is often due to a chromosomal deletion of4 Mb at the 17p11.2 locus, leading to haploinsufficiency of numerous genes. Mutations of one of these gemes, RAI1, seems to be responsible for the main features found with heterozygous 17p11.2 deletions.We studied DNA from 30 patients with SMS using a 300 bp amplimers comparative genome hybridisation array encompassing 75 loci from a 22 Mb section from the short arm of chromosome 17.Three patients had large deletions (10%). Genotype-phenotype correlation showed that two of them had cleft palate, which was not found in any of the other patients with SMS (p0.007, Fisher's exact test). The smallest extra-deleted region associated with cleft palate in SMS is 1.4 Mb, contains16 genes and is located at 17p11.2-17p12. Gene expression array data showed that the ubiquitin B precursor (UBB) is significantly expressed in the first branchial arch in the fourth and fifth weeks of human development.These data support UBB as a good candidate gene for isolated cleft palate. |
| Databáze: | OpenAIRE |
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