Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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.
Pubmed: (View Article at PubMed) PMID:16188863
DOI: Full-text: DOI:10.1080/08035250510026508

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+/+.

Annotation

Phenotype Annotations
Objects Annotated
Objects referenced in this article

Additional Information

 
RGD Object Information
RGD ID: 11570538
Created: 2016-12-19
Species: All species
Last Modified: 2016-12-19
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.