We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.
- Authors
Franco, Luis M.; de Ravel, Thomy; Graham, Brett H.; Frenkel, Stephanie M.; Van Driessche, Jozef; Stankiewicz, Pawel; Lupski, James R.; Vermeesch, Joris R.; Sau Wai Cheung
- Abstract
Genomic rearrangements are an increasingly recognized mechanism of human phenotypic variation and susceptibility to disease. Sotos syndrome is characterized by overgrowth, macrocephaly, developmental delay and advanced osseous maturation. Haploinsufficiency of NSD1, caused by inactivating point mutations or deletion copy number variants, is the only known cause of Sotos syndrome. A recurrent 2 Mb deletion has been described with variable frequency in different populations. In this study, we report two individuals of different ethnic and geographical backgrounds, with duplications reciprocal to the common Sotos syndrome deletion. Our findings provide evidence for the existence of a novel syndrome of short stature, microcephaly, delayed bone development, speech delay and mild or absent facial dysmorphism. The phenotype is remarkably opposite to that of Sotos syndrome, suggesting a role for NSD1 in the regulation of somatic growth in humans.
- Subjects
MICROCEPHALY; SHORT stature; PHENOTYPES; DISEASE susceptibility; DEVELOPMENTAL delay
- Publication
European Journal of Human Genetics, 2010, Vol 18, Issue 2, p258
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/ejhg.2009.164