BMC pediatrics · 2026
Novel biallelic multi-exon duplication in the PIGN gene associated with multiple congenital anomalies-hypotonia-seizures syndrome 1.
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Li Xiaohua, Wang Xia, Zhu Jimo, Li Hongping
Аннотация
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.
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.