A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2

• Published in: Gene 2020-08, Vol.753, p.144816-144816, Article 144816
• Main Authors: Siavrienė, Evelina, Preikšaitienė, Eglė, Maldžienė, Živilė, Mikštienė, Violeta, Rančelis, Tautvydas, Ambrozaitytė, Laima, Gueneau, Lucie, Reymond, Alexandre, Kučinskas, Vaidutis
• Format: Article
• Language: English
• Subjects: 13q31.3 microduplication; Feingold syndrome 2; GPC5; miR-17 ~ 92 cluster; MIR17HG; qPCR
• ISSN: 0378-1119; 1879-0038
• DOI: 10.1016/j.gene.2020.144816

•The rearrangement in the proband described here is limited to MIR17HG.•Normal expression level of GPC5 excludes the contribution to a clinical phenotype.•Duplication of MIR17HG is associated with mirroring features of Feingold syndrome 2. Hemizygosity of the MIR17HG gene encoding the miR-17 ~ 92 cluster is associated with Feingold syndrome 2 characterized by intellectual disability, skeletal abnormalities, short stature, and microcephaly. Here, we report on a female with a de novo 13q31.3 microduplication encompassing MIR17HG but excluding GPC5. She presented developmental delay, skeletal and digital abnormalities, and features such as tall stature and macrocephaly mirroring those of Feingold syndrome 2 patients. The limited extent of the proband’s rearrangement to the miR cluster and the corresponding normal expression level of the neighboring GPC5 in her cells, together with previously described data on affected individuals of two families carrying overlapping duplications of the miR-17 ~ 92 cluster that comprise part of GPC5, who likewise presented macrocephaly, developmental delay, as well as skeletal, digital and stature abnormalities, allow to define a new syndrome due to independent microduplication of the miR-17 ~ 92 cluster.