A large-scale mutation search reveals genetic heterogeneity in 3M syndrome
Open Access
- 29 October 2008
- journal article
- Published by Springer Science and Business Media LLC in European Journal of Human Genetics
- Vol. 17 (3), 395-400
- https://doi.org/10.1038/ejhg.2008.200
Abstract
The 3M syndrome is a rare autosomal recessive disorder recently ascribed to mutations in the CUL7 gene and characterized by severe pre- and postnatal growth retardation. Studying a series of 33 novel cases of 3M syndrome, we have identified deleterious CUL7 mutations in 23/33 patients, including 19 novel mutations and one paternal isodisomy of chromosome 6 encompassing a CUL7 mutation. Lack of mutations in 10/33 cases and exclusion of the CUL7 locus on chromosome 6p21.1 in six consanguineous families strongly support the genetic heterogeneity of the 3M syndrome.Keywords
This publication has 16 references indexed in Scilit:
- Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: new hypothesis raised by the finding of a unique case with hemizygotic deletion in the critical regionJournal of Medical Genetics, 2006
- Cytoplasmic localized ubiquitin ligase cullin 7 binds to p53 and promotes cell growth by antagonizing p53 functionOncogene, 2006
- Simian Virus 40 Large T Antigen's Association with the CUL7 SCF Complex Contributes to Cellular TransformationJournal of Virology, 2005
- Identification of mutations in CUL7 in 3-M syndromeNature Genetics, 2005
- Function and regulation of cullin–RING ubiquitin ligasesNature Reviews Molecular Cell Biology, 2005
- Structure of the Cul1–Rbx1–Skp1–F boxSkp2 SCF ubiquitin ligase complexNature, 2002
- Simian Virus 40 Large T Antigen Binds a Novel Bcl-2 Homology Domain 3-containing Proapoptosis Protein in the CytoplasmPublished by Elsevier BV ,2000
- The 3-M syndrome: risk of intracerebral aneurysm?Journal of Medical Genetics, 1992
- Further delineation of the 3‐M syndrome with review of the literatureAmerican Journal of Medical Genetics, 1987
- The 3-M syndrome.Journal of Medical Genetics, 1984