FEINGOLD SYNDROME

ANALYSIS OF MYCN AND MIR17HG GENES IN PATIENTS WITH FEINGOLD SYNDROME

Feingold syndrome is an autosomal dominant disorder with incomplete penetrance. Feingold syndrome type 1 is characterised by oesophageal, duodenal and anal atresia, heart malformations, urinary tract malformations, microcephaly, minor digital malformations, mild learning disability and short stature.  Core features of Feingold syndrome type 1 include intestinal atresia, brachymesophalangy, toe syndactyly, microcephaly and short palpebral fissures. Patients with three or more of these features should be considered for testing. 

Manifestations common to both Feingold syndrome type 1 and Feingold syndrome type 2 include microcephaly, short stature, and brachymesophalangy; but those with Feingold syndrome type 2 lack gastrointestinal atresias (Grote et al 2015 Am J Med Genet Part A 167A:3219–3225). 

Disease-causing variants in the MYCN gene have been identified in 64% (32/50) of patients with Feingold syndrome type 1. Whole or partial MYCN deletions have also been described (Marcelis CL et al Hum Mutat. 2008 Sep;29(9):1125-32). Feingold syndrome type 2 is caused by germline heterozygous deletions of MIR17HG (de Pontual et al Nature Genet. 43: 1026-1030, 2011). 

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