FEINGOLD SYNDROME

MYCN GENE ANALYSIS IN PATIENTS WITH FEINGOLD SYNDROME

Feingold syndrome is characterised by oesophageal, duodenal and anal atresia, heart malformations, urinary tract malformations, microcephaly, minor digital malformations, mild learning disability and short stature. Feingold syndrome is an autosomal dominant disorder with incomplete penetrance. Core features of Feingold syndrome include intestinal atresia, brachymesophalangy, toe syndactyly, microcephaly and short palpebral fissures. Patients with three or more of these features should be considered for testing.

Disease-causing variants in the MYCN gene have been identified in 64% (32/50) of patients with Feingold syndrome. Whole or partial MYCN deletions have also been described (Marcelis CL et al Hum Mutat. 2008 Sep;29(9):1125-32).

The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.