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Background <p>Multiple congenital anomalies–hypotonia–seizures syndrome type 1 (MCAHS1) is a rare autosomal recessive disorder caused by <i>PIGN</i> variants affecting glycosylphosphatidylinositol (GPI) anchor biosynthesis. Exon-level duplications are exceptionally uncommon.</p> Case presentation <p>We describe a male neonate with multiple congenital anomalies, including auricular malformation, submucous cleft palate, accessory nipple, cryptorchidism, microphallus, clubfoot, and digital hypoplasia, accompanied by hypotonia and poor sucking. Whole-exome trio sequencing identified a biallelic duplication spanning exons 4–22 of <i>PIGN</i>, with an apparent four-copy state in the proband.</p> Conclusion <p>This report expands the mutational spectrum of <i>PIGN</i>-related disorders and emphasizes the diagnostic value of trio-based exome sequencing in neonates with multiple congenital anomalies and hypotonia.</p>

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Novel biallelic multi-exon duplication in the PIGN gene associated with multiple congenital anomalies–hypotonia–seizures syndrome 1

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  • 发表日期：

    2026年7月8日

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  • Xiaohua Li,
  • Xia Wang,
  • Jimo Zhu,
  • Hongping Li

摘要

Background

Multiple congenital anomalies–hypotonia–seizures syndrome type 1 (MCAHS1) is a rare autosomal recessive disorder caused by PIGN variants affecting glycosylphosphatidylinositol (GPI) anchor biosynthesis. Exon-level duplications are exceptionally uncommon.

Case presentation

We describe a male neonate with multiple congenital anomalies, including auricular malformation, submucous cleft palate, accessory nipple, cryptorchidism, microphallus, clubfoot, and digital hypoplasia, accompanied by hypotonia and poor sucking. Whole-exome trio sequencing identified a biallelic duplication spanning exons 4–22 of PIGN, with an apparent four-copy state in the proband.

Conclusion

This report expands the mutational spectrum of PIGN-related disorders and emphasizes the diagnostic value of trio-based exome sequencing in neonates with multiple congenital anomalies and hypotonia.