Eur J Med Genet 2022 Mar 9;65(3):104448. Epub 2022 Feb 9.
Department of Hereditary and Congenital Disorders, Charles Nicolle Hospital, Tunis, Tunisia; Department of Human Genetics, Faculty of Medicine, Tunis El-Manar University, Tunis, Tunisia.
3M syndrome (3MS) is a rare autosomal recessive primordial growth disorder characterized by a severe pre- and post-natal growth deficiency, minor dysmorphisms and skeletal abnormalities, contrasting with normal intellect and endocrine function. Three different genes have been so far involved in the disease, with mutations in CUL7, OBSL1 and CCDC8. The CUL7 gene mutations are accountable for 77,5% of the genetically confirmed patients, with a founder mutation identified in exon 24 for the Maghreb families. Read More