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MYCN and Feingold Syndrome 

MYCN and Feingold Syndrome
MYCN and Feingold Syndrome

Hans Van Bokhoven

and Han G. Brunner

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date: 07 March 2021

Feingold syndrome (FS) is a dominantly inherited syndrome with high penetrance and variable clinical expressivity. Its most consistent features are microcephaly, with mental retardation in half of these cases, brachy-mesophalangy, clinodactyly, syndactyly of toes and short palpebral fissures. Gastrointestinal atresias are also frequently observed, mostly manifesting as esophageal atresia/tracheo-esophageal fistula. The MYCN gene on chromosome 2p23-p24 has been identified as the disease-causing gene in this syndrome. Mutations include complete gene deletions, nonsense mutations, frameshift mutations and amino acid substitutions at positions that are crucial for DNA-binding of the protein. All these mutations are predicted to be null-alleles, indicating that haplo-insufficiency is the disease mechanism for FS. Strikingly, MYCN gene amplification and overexpression is found in a number of tumors (e.g. neuroblastomas) and is generally associated with poor prognosis. Such tumors exhibit the opposite cellular phenotype to that observed in FS patients or in N-myc knockout mice. There is convincing evidence indicating that MYCN/N-myc dosage is critically important for cell proliferation and differentiation. Downstream targets of MYCN include the microRNA cluster miR17~92. Interestingly, germline deletions of the microRNA cluster miR17~92 give rise to a phenotype with similarity to Feingold syndrome, suggesting a functional interaction between MYCN and miR17~92 in embryonic development.

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