ArticleJournal of medical genetics2007
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.
Article in Journal of medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 25 citations in OpenAlex.
- A Case of Smith-Magenis Syndrome Undergoing Palatoplasty.Journal of plastic and reconstructive surgery · 2026Article
- Precision information extraction for rare disease epidemiology at scale.Journal of translational medicine · 2023Article
- Gag-like proteins: Novel mediators of prenatal alcohol exposure in neural development.Alcoholism, clinical and experimental research · 2022Article
- Prenatal diagnosis and neonatal phenotype of aJournal of genetics · 2020Article
- Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.American journal of medical genetics. Part A · 2012Article
- A genomewide linkage scan for quantitative trait loci influencing the craniofacial complex in baboons (Papio hamadryas spp.).Genetics · 2008Article
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Authors and funding
17 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSmith-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 of <4 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.
methodsWe 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.
resultsThree 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 (p<0.007, Fisher's exact test). The smallest extra-deleted region associated with cleft palate in SMS is 1.4 Mb, contains <16 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.
conclusionThese data support UBB as a good candidate gene for isolated cleft palate.
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