ClinVar Miner

Submissions for variant NM_001354636.2(ERI1):c.282del (p.Lys94_Val95insTer) (rs1563322318)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics RCV000714292 SCV000840086 likely pathogenic Global developmental delay; Coarse facial features; Unilateral renal agenesis; Abnormality of finger 2018-10-12 criteria provided, single submitter research The c.627delA variant in ERI1 gene is a novel variant, not reported to any large population databases. The variant was found in two siblings from an Indian family, similarly affected with global developmental delay, facial dysmorphism, digital anomalies and unilateral renal agenesis. Recently Choucair et al. 2017 reported a homozygous microdeletion of ERI1 and MFHAS1 genes in a patient with intellectual disability, limb abnormalities (digital), and cardiac malformation. The phenotype of our patient matches the Choucair et al. case's phenotype to a large extent. The exoribonuclease 1 (ERI1) is involved in fundamental cellular processes such as protein biogenesis, DNA replication and cell division. ERI1 is highly expressed in mouse bladder, bone, dorsal root ganglion, spleen, and thymus. It is well conserved from fission yeast to humans (Iida et al., 2006). Mice homozygous for a null ERI1 allele exhibit postnatal lethality, decreased body size and decreased proliferation of embryonic fibroblasts (Ansel et al., 2008). Further, a skeletal dysmorphology phenotype was found, revealing an additional pair of ribs and a fusion of the eighth rib pair to the sternum in some of these mice (Simeone et al., 1987; Van den Akker et al., 2001; Wan et al., 2001). The c.627delA variant observed in ERI1 truncates the 3'-5' exonuclease domain because of the premature stop codon. In summary, the c.627delA variant meets our criteria to be classified as likely pathogenic (Richards et al., 2015) based upon segregation studies, absence from controls and existing reports (Choucair et al. 2017).

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