Finding gold in feingold syndrome-2

Abstract

Feingold syndrome-2 (MIM 614326) is a rare autosomal dominant disorder, characterised by a variable combination of short stature, microcephaly, digital anomalies and learning difficulties. To date, only 12 cases have been reported in literature, with the smallest region of overlap (SRO) encompassing MIR17HG and the first exon of GPC5. Although previous work with mouse models has demonstrated that MIR17HG haploinsufficiency produces a phenotype consistent with the skeletal features of Feingold syndrome-2, the contribution of GPC5 haploinsufficiency to the phenotype could not previously be ruled out. This presentation highlights the first known case of Feingold syndrome-2 with a 13q31.3 deletion that solely involves the MIR17HG gene and solidifies previous supportive evidence of MIR17HG pathogenicity in this disorder.