Acta neurologica Belgica · 2025
Missense genetic variant in IQCA1 gene in patients with meningioma.
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Jahangiri Sepideh, Abdan Zahra, Totonchi Mehdi, Allahmoradi Fariba, Mousavi Seyed Ahmad, Aznab Mozaffar, Kobraei Majid, Padidar Kimiya
Аннотация
BACKGROUND: Meningioma, a tumor arising from the meninges of the central nervous system, is generally considered benign. Familial meningiomas are extremely rare, and the genetic basis of this condition remains largely elusive, especially in under-represented populations. This study investigates a family from Kashan, Isfahan province, Iran-an under-explored region in genetic research-with the goal of identifying novel germline variants contributing to meningioma development.
METHODS: Whole Exome Sequencing (WES) was performed on a family with multiple meningioma cases (n = 3). Bioinformatic analyses identified candidate variants, which were further validated in additional family members and a cohort of 23 idiopathic, sporadic meningioma patients.
RESULTS: A novel heterozygous missense mutation in the IQCA1 gene (NM_001270584: c.C787T; p.R263W) was found to segregate with the disease, supporting an autosomal dominant inheritance pattern. In silico analysis suggests that this mutation may disrupt IQCA1's ATP hydrolysis activity, potentially contributing to tumorigenesis. This is the first report linking IQCA1 to familial meningioma, providing new insights into its pathogenesis.
CONCLUSION: Our findings reveal a novel IQCA1 p.R263W mutation in a familial meningioma case, with implications for genetic counseling and surveillance in at-risk populations. This study highlights the importance of studying under-represented populations and contributes new insights into meningioma genetics and oncogenesis.
METHODS: Whole Exome Sequencing (WES) was performed on a family with multiple meningioma cases (n = 3). Bioinformatic analyses identified candidate variants, which were further validated in additional family members and a cohort of 23 idiopathic, sporadic meningioma patients.
RESULTS: A novel heterozygous missense mutation in the IQCA1 gene (NM_001270584: c.C787T; p.R263W) was found to segregate with the disease, supporting an autosomal dominant inheritance pattern. In silico analysis suggests that this mutation may disrupt IQCA1's ATP hydrolysis activity, potentially contributing to tumorigenesis. This is the first report linking IQCA1 to familial meningioma, providing new insights into its pathogenesis.
CONCLUSION: Our findings reveal a novel IQCA1 p.R263W mutation in a familial meningioma case, with implications for genetic counseling and surveillance in at-risk populations. This study highlights the importance of studying under-represented populations and contributes new insights into meningioma genetics and oncogenesis.