RNF135 mutations are not present in patients with Sotos syndrome‐like features

@article{Visser2009RNF135MA,
  title={RNF135 mutations are not present in patients with Sotos syndrome‐like features},
  author={Remco Visser and Nynke Koelma and Linda Vijfhuizen and Michiel J R van der Wielen and Sarina G. Kant and Martijn H. Breuning and Jan M. Wit and Monique Losekoot},
  journal={American Journal of Medical Genetics Part A},
  year={2009},
  volume={149A}
}
RNF135 Mutations Are Not Present in Patients With Sotos Syndrome-Like Features Remco Visser,* Nynke Koelma, Linda Vijfhuizen, Michiel J.R. van der Wielen, Sarina G. Kant, Martijn H. Breuning, Jan M. Wit, and Monique Losekoot Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands 
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The aim of this review is to give a comprehensive overview of the clinical, molecular genetic and pathophysiological aspects of each of the classic and new overgrowth syndromes.
Genome-Wide SNP Array Analysis in Patients with Features of Sotos Syndrome
TLDR
The high-resolution genome-wide SNP array approach resulted in a detection rate of 15% of novel abnormalities and is therefore a powerful method to attain a molecular diagnosis in Sotos syndrome-like patients.
A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing
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This review provides key clinical “handles” to aid clinical diagnosis and a list of genes to aid with panel design when using next generation sequencing, which it is believed is frequently needed due to the overlapping phenotypic features seen between overgrowth syndromes.
Emerging genotype–phenotype relationships in patients with large NF1 deletions
TLDR
Current knowledge about genotype–phenotype relationships in NF1 microdeletion patients is summarized and the potential role of the genes located within the NF1microdeletions interval whose haploinsufficiency may contribute to the more severe clinical phenotype is discussed.
Mutation screening of the ubiquitin ligase gene RNF135 in French patients with autism
TLDR
A genetic analysis of the coding sequence of RFN135 was carried out in a French cohort of patients with autism and observed a significantly increased frequency of genotypes carrying the rare allele of the rs111902263 missense variant, leading to further cellular and molecular studies required to elucidate the role of this gene and the variant K115 in brain development and neuronal function.
Growth in neurofibromatosis 1 microdeletion patients
TLDR
Although children with NF1 microdeletions were much taller than non‐deletion NF1 patients at all ages after 2 years, the lengths of deletion and nondeletionNF1 patients were similar in early infancy, an observation that is remarkable because most NF1 Patients are smaller than average for age and sex.
A CNV Catalogue
Rapid incorporation of microarray analysis/aCGH for studies of children with developmental disabilities and its endorsement as a first-tier test for these children [1] has yielded a vast number of…
β-Elemene Inhibits the Proliferation and Migration of Human Glioblastoma Cell Lines via Suppressing Ring Finger Protein 135
TLDR
It is suggested that β-elemene inhibits proliferation, migration and tumorigenicity of human glioblastoma cells through suppressing RNF135.

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In patients suspected of having Sotos syndrome, facial features and overgrowth were highly predictive of a NSD1 gene aberration, whereas developmental delay and advanced bone age were not.
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth
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