Osteopathia striata with cranial sclerosis caused by the AMER1 gene variant
10.3760/cma.j.cn101070-20240429-00268
- VernacularTitle:AMER1基因变异导致纹状体性骨病伴颅骨硬化病
- Author:
Jian MA
1
;
Xiao CHEN
;
Yuqiang LYU
;
Min GAO
;
Rui DONG
;
Zhongtao GAI
;
Yi LIU
Author Information
1. 山东大学附属儿童医院儿科研究所，济南 250022
- Publication Type:Journal Article
- Keywords:
AMER1 gene;
Whole exome sequencing;
Osteopathia striata with cranial sclerosis
- From:
Chinese Journal of Applied Clinical Pediatrics
2025;40(1):60-63
- CountryChina
- Language:Chinese
-
Abstract:
A retrospective analysis was made on clinical data of a child with osteopathia striata with cranial sclerosis (OS-CS) diagnosed in the Department of Neonatology, Children′s Hospital Affiliated to Shandong University in January 2024.The proband was admitted to hospital due to premature delivery at 30 + 2 weeks, shortness of breath and poor response for 13 days after resuscitation.After birth, the child had no spontaneous breathing with floppy limbs.Tracheal intubation was required for positive pressure ventilation.Cranial ultrasound showed right subventricular hemorrhage with bilateral intraventricular hemorrhage and bilateral parieto-occipital subdural hemorrhage; cardiac ultrasound showed patent ductus arteriosus and tricuspid regurgitation; scrotal ultrasound showed bilateral inguinal cryptorchidism with right testicular hydrocele; gastrointestinal ultrasound showed that the lumen of the transverse colon was filled with many fecal matters with strong echoes.Whole exome sequencing(WES) indicated that the proband carried a hemizygous variant of c. 1489C>T(p.Arg497 *) in the AMER1 gene, which was inherited from his mother, as verified by Sanger sequencing.The hemizygous variant of c. 1489C>T(p.Arg497 *) in the AMER1 gene was rated as likely pathogenic (PVS1+ PM2-Supporting) according to the American College of Medical Genetics and Genomics(ACMG) guidelines, which was not included in the Human Gene Mutation Database(HGMD) database.High-throughput sequencing identified the hemizygous variant of c. 1489C>T(p.Arg497 *) in the AMER1 gene as the genetic etiology of the proband.This was the first report of AMER1 gene variant leading to OS-CS in China.The study enriches the variation spectrum and clinical phenotype spectrum of the AMER1 gene, providing a valuable foundation for clinical diagnosis, treatment, and subsequent research of the disease.
