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First page of Kallmann syndrome due to balanced X chromosomal pericentric inversion disrupting ANOS1

Introduction: Kallmann syndrome (KS) is a rare congenital disorder characterized by hypogonadotropic hypogonadism (HH) and anosmia/hyposmia. KS primarily results from nucleotide substitutions and copy-number variations in known causative genes. Only one balanced X chromosomal inversion involving ANOS1 has been identified in a patient. Case presentation: We encountered a boy with typical clinical features of KS. G-banding showed a 46,Y,inv(X)(pter→p22.32::q21.1→p22.32::q21.1→qter) karyotype, and whole genome sequencing and array-based comparative genomic hybridization detected a copy-number neutral pericentric inversion involving a 72 Mb region. The breakpoints were mapped to ANOS1 intron 3 and an intergenic region at Xq21.1. The two breakpoints shared a 3 bp complementary sequence but were not associated with repetitive elements or nucleotide insertions at the fusion junction. Conclusion: These results indicate that KS-causative inversions on the X chromosome can arise from replication-based errors. Furthermore, our data provide evidence that balanced X chromosomal inversions constitute a rare monogenic cause of KS.

Journal Section:
Novel Insights from Clinical Practice
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S. Karger AG, Basel
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2025
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