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.
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Huber, C., Delezoide, AL., Guimiot, F. et al. A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. Eur J Hum Genet 17, 395–400 (2009). https://doi.org/10.1038/ejhg.2008.200
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DOI: https://doi.org/10.1038/ejhg.2008.200
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