GSG1L2 – Neurodevelopmental Disorder

A recent study has identified a maternally inherited familial translocation disrupting GSG1L2 in a proband manifesting neurodevelopmental disorder features (PMID:36672520). In this report, the proband’s clinical findings were consistent with a neurodevelopmental disorder diagnosis (MONDO_0700092), and the structural disruption of GSG1L2 was noted in the context of a complex rearrangement involving multiple genes. Segregation data include at least one additional affected relative carrying the translocation, although details beyond this limited family evaluation are sparse.

Although the study also reported variants in other candidate genes, the direct genetic evidence for GSG1L2 is limited to the reported chromosomal rearrangement, and no definitive HGVS variant (i.e. in the form of a c. notation) has been detailed specifically for this gene. Functional studies were not conducted for GSG1L2, so its pathogenic role is currently inferred solely from its disruption in a familial case. Additional studies will be critical to further elucidate the mechanistic connection between GSG1L2 disruption and the neurodevelopmental disorder phenotype. Key take‐home: while the available evidence supports a possible association, the current genetic and experimental evidence for GSG1L2 remains limited for clinical diagnostic decision‑making.

References

• Biomedicines • 2022 • A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1) PMID:36672520

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