7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot

摘要

In a recent article published online the 5th December in the Journal, Vanzo et al. [2013] reported a case of a girl harboring a 125-kb duplication of chromosome 7p22.3 that fully includes the FTSJ2 and NUDT1 genes and partially includes the MAD1L1 and SNX8 genes. The patient presented a growth and global developmental delay, hypotonia, and tetralogy of Fallot. Authors argue that the tetralogy of Fallot is likely due to the disruption of the SNX8 gene. We would like to discuss that the haploinsufficieny of SNX8 is not necessarily associated with tetralogy of Fallot by describing a patient with an inherited 75-kb deletion on 7p22.3 including 10 exons of SNX8 and showing no tetralogy of Fallot or other cardiac abnormalities.