Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant.

We describe the case of two sisters, carrying the homozygous p.Arg609His variant of the gene, who present a milder phenotype of TELO2-related syndrome. Such variant has been reported once in a more severely affected patient, in compound heterozygous state associated with the p.Pro260Leu variant, suggesting a possible role of the p.Arg609His variant in determining milder phenotypes. Comparing the siblings with all previously reported cases, we offer an overview on the condition and discuss TELO2 genetic interactions, in order to further explore the molecular bases of this recently described disorder. PMID: 33307281 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/33307281?dopt=Abstract

Source: European Journal of Medical Genetics - December 8, 2020 Category: Genetics & Stem Cells Authors: Ciaccio C, Duga V, Pantaleoni C, Esposito S, Moroni I, Pinelli M, Castello R, Nigro V, Chiapparini L, D'Arrigo S, TUDP Study Group Tags: Eur J Med Genet Source Type: research