A homozygous splice-site variant in SAMHD1 shows variable expressivity of Aicardi-Goutières Syndrome Type 5: a case report and literature review - Takeaways - MDSpire

A homozygous splice-site variant in SAMHD1 shows variable expressivity of Aicardi-Goutières Syndrome Type 5: a case report and literature review

  • By

  • Yousaf, Hammad

  • Zonash, Zehra

  • Manzoor, Javeria

  • Ali, Asmat

  • Khalid, Lubaba Bintee

  • Zafar, Ghazala

  • Ali, Sajid

  • Toft, Mathias

  • Fatima, Ambrin

  • Iqbal, Zafar

  • April 29, 2026

  • 0 min

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  • 1

    Aicardi-Goutières syndrome type 5 (AGS5) is caused by loss-of-function variants in the SAMHD1 gene, leading to severe neurodevelopmental issues.

  • 2

    The case report describes two siblings from a consanguineous Pakistani family with AGS5 presenting with microcephaly and developmental delay.

  • 3

    Affected individuals exhibited early-onset neurodevelopmental delay, but lacked spasticity, seizures, and aggressive behavior typically associated with AGS5.

  • 4

    Whole-exome sequencing revealed a pathogenic homozygous splice-site variant in SAMHD1, classified according to ACMG criteria.

  • 5

    This case highlights the need to consider AGS in children with congenital microcephaly and neurodevelopmental impairment, regardless of typical symptoms.

Original Source(s)

A homozygous splice-site variant in SAMHD1 shows variable expressivity of Aicardi-Goutières Syndrome Type 5: a case report and literature review

  • by Yousaf, Hammad , Zonash, Zehra , Manzoor, Javeria , Ali, Asmat , Khalid, Lubaba Bintee, Zafar, Ghazala , Ali, Sajid , Toft, Mathias , Fatima, Ambrin , Iqbal, Zafar

  • April 29, 2026

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