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

Xiaohua Li, Xia Wang, Jimo Zhu, Hongping Li

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Article in BMC pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 authors.

Xiaohua Li *School of Medicine, Chengdu Women's and Children's Central Hospital, University of Electronic Science and Technology of China, Chengdu, China.

Xia Wang *Affiliated Shenzhen Children's Hospital of Shantou University Medical College, Shenzhen, China.

Jimo ZhuDepartment of Pediatrics, School of Medicine and Life Science of Chengdu, University of Traditional Chinese Medicine, Chengdu, China.

Hongping Li *Affiliated Shenzhen Children's Hospital of Shantou University Medical College, Shenzhen, China. hongping_li@126.com.

Funding

Guangdong High-level Hospital Construction Fund and Clinical key specialty construction project of Guangdong Province ynkt2021-2216Sanming Project of Medicine in Shenzhen SZSM202311027Shenzhen Science and Technology Program RCJC20231211085923029

6 · The paper itself

Abstract

backgroundMultiple 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.

conclusionThis 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.

Indexed as

Abnormalities, MultipleGene DuplicationMuscle HypotoniaPhosphotransferasesExome SequencingExonsHumansInfant, NewbornMalePhosphotransferasesPIGN protein, humanExon duplicationMultiple congenital anomalies–hypotonia–seizures syndrome type 1 (MCAHS1)PIGN geneWhole-exome sequencing

Identifiers

PMID42420894

DOI10.1186/s12887-026-06923-2

PMCPMC13628969

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.