PIGN mutation multiple congenital anomalies-hypotonia-seizures syndrome 1: A case report
Fei Hou1, Shan Shan1, Hua Jin2
1Department of Prenatal Diagnosis, Jinan Maternal and Child Health Hospital, Jinan 250001, Shandong Province, China.
Insights
Mutations in the PIGN gene are linked to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 (MCAHS1). This case highlights PIGN gene sequencing as crucial for diagnosing epilepsy and related developmental disorders.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 (MCAHS1) is a rare genetic disorder.
- Mutations in the PIGN gene have been identified as a cause of MCAHS1.
Observation:
- A 16-year-old female presented with epilepsy, developmental delay, and cerebellar atrophy.
- She had compound heterozygous variants in the PIGN gene: a nonsense splice site mutation inherited from her mother and a novel deletion inherited from her father.
Findings:
- This case expands the known spectrum of PIGN gene mutations associated with MCAHS1.
- The findings reinforce the link between PIGN gene mutations and MCAHS1, suggesting it may be an underdiagnosed cause of epilepsy.
Implications:
- Genetic sequencing of the PIGN gene is recommended for patients with epilepsy or suspected fetal anomalies.
- Early and accurate genetic diagnosis can guide clinical management and genetic counseling for affected families.
Background:
Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) associated with mutations in PIGN gene.
Case Summary:
The authors report 1 case of a 16 years old girl who was presented with epilepsy, developmental delay and cerebellar atrophy. She harbors a compound heterozygous variant in the PIGN gene, include a nonsense splice site mutation (c.2557A>C) which was inherited from her mother, and a novel site mutation (c.980del) which was inherited from her father.
Conclusion:
This case report expands the mutation spectrum found in PIGN gene, and strengthens the association between PIGN mutation and MCAHS1. Mutations in PIGN gene may be an underestimated cause of epilepsy. The authors recommend that, for patients with epilepsy or prenatal diagnosis of highly suspicious fetus, gene sequencing should be the preferred detection method.
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