摘要回顾性分析2024年1月山东大学附属儿童医院新生儿科确诊的1例纹状体性骨病伴颅骨硬化病(OS-CS)患儿的临床资料。先证者因"30 ＋2周早产，窒息复苏后气促、反应差13 d"入院。患儿出生后无自主呼吸，四肢松软，需气管插管复苏囊正压通气。头颅超声提示右侧室管膜下出血并双侧脑室内出血，双侧顶枕硬膜下出血；心脏彩超提示动脉导管未闭、三尖瓣返流；阴囊超声提示双侧腹股沟隐睾并右侧睾丸鞘膜积液；胃肠超声示横结肠腔内充盈较多粪便强回声等。全外显子组测序(WES)提示先证者携带 AMER1基因c.1489C>T(p.Arg497 *)半合变异，Sanger验证该变异遗传自受检者母亲。依据美国医学遗传和基因组学学会(ACMG)指南， AMER1基因c.1489C>T(p.Arg497 *)半合变异评定为疑似致病(PVS1＋PM2-Supporting)，该变异未被人类基因突变数据库(HGMD)收录。本研究通过高通量测序明确 AMER1基因c.1489C>T(p.Arg497 *)半合变异是先证者的遗传学病因，是国内 AMER1基因变异导致OS－CS的首次报道。本研究丰富了 AMER1基因的变异谱和临床表型谱，为OS－CS的临床诊疗及后续研究提供了基础。

abstractsA 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.