RGD Reference Report - Auxological data in patients clinically suspected of Sotos syndrome with NSD1 gene alterations. - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Auxological data in patients clinically suspected of Sotos syndrome with NSD1 gene alterations.

Authors: De Boer, L  Le Cessie, S  Wit, JM 
Citation: de Boer L, etal., Acta Paediatr. 2005 Aug;94(8):1142-4.
RGD ID: 11570538
Pubmed: PMID:16188863   (View Abstract at PubMed)
DOI: DOI:10.1080/08035250510026508   (Journal Full-text)

AIM: Nuclear receptor-binding SET domain-containing protein 1 (NSD1) gene mutations and deletions (NSD1+/-) are the major cause of Sotos syndrome. The aim was to investigate which auxology parameters relate to NSD1+/- in patients clinically suspected of Sotos syndrome. METHODS: In 32 patients clinically suspected of Sotos syndrome, we compared auxology parameters between NSD1+/- patients and patients without NSD1 gene alterations (NSD1+/+). The statistical performance of these parameters to predict NSD1+/- was assessed. RESULTS: Arm span-for-height standard deviation score (SDS) and hand length SDS were significantly higher in NSD1+/- patients. CONCLUSION: Arm span for height and hand length are discriminating parameters between NSD1+/- and NSD1+/+.

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Increased arm span  IAGP 11570538DNA:mutation: :RGD 
Objects Annotated

Genes (Homo sapiens)
NSD1  (nuclear receptor binding SET domain protein 1)

Objects referenced in this article
Gene Nsd1 nuclear receptor-binding SET-domain protein 1 Mus musculus
Gene Nsd1 nuclear receptor binding SET domain protein 1 Rattus norvegicus

Additional Information