Article: article from journal or magazin.
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
European Journal of Human Genetics : Ejhg
Publication types: Journal Article Publication Status: ppublish
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.
Abnormalities, Multiple/genetics, Child, Child, Preschool, Consanguinity, Cullin Proteins/genetics, Family, Fetal Growth Retardation/genetics, Fetus/pathology, Fetus/radiography, Genes, Recessive, Genetic Heterogeneity, Humans, Male, Mutation, Syndrome
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