Copy number variation of the REXO1L1 gene cluster; euchromatic deletion variant or susceptibility factor?

Abstract

Relatively little is known about the function of the RNA exonuclease 1 homologue (Saccharomyces cerevisiae)-like 1 gene (REXO1L1) in humans and only two titles in PubMed contain the REXO1L1 acronym. Evidence published in this journal indicated that copy number variation (CNV) of the REXO1L1 gene and pseudogene cluster was common and likely to be benign.¹ In contrast, it has been proposed that de novo heterozygous deletion of the REXO1L1 cluster in a single patient is responsible for a new microdeletion syndrome including dysmorphic features, cleft palate, incomplete spina bifida, dyspraxia, global developmental delay, growth retardation and gastrointestinal malabsorption.² Here we argue that determining the possible clinical significance of large-scale CNV requires the application of accurate quantitative techniques to both individual families and large cohorts of affected and unaffected individuals.

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