A homozygous splice-site variant in SAMHD1 shows variable expressivity of Aicardi-Goutières Syndrome Type 5: a case report and literature review - Summary - MDSpire
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A homozygous splice-site variant in SAMHD1 shows variable expressivity of Aicardi-Goutières Syndrome Type 5: a case report and literature review
To report a case of Aicardi-Goutières syndrome type 5 (AGS5), a rare pediatric-onset monogenic interferonopathy caused by a homozygous splice-site variant in the SAMHD1 gene, and to highlight the variable expressivity of the condition.
Key Findings:
Affected individuals exhibited neurodevelopmental delay, microcephaly, and muscular atrophy without spasticity, seizures, or aggressive behavior.
The identified variant (c.1503+1G>A) is predicted to disrupt normal splicing of the SAMHD1 gene.
Both parents were heterozygous carriers, confirming the autosomal recessive inheritance.
Interpretation:
The findings suggest that AGS5 can present with a range of symptoms, and the absence of typical features like spasticity and seizures does not rule out the diagnosis, highlighting the atypical presentations of AGS5.
Limitations:
The study is based on a small sample size from a single family.
Long-term outcomes and broader phenotypic variability in AGS5 require further investigation, emphasizing the need for larger studies.
Conclusion:
This case expands the understanding of SAMHD1-related AGS and emphasizes the need for genetic evaluation in children with congenital microcephaly and neurodevelopmental impairments.
