AUTHOR=Yunfeng Liu , Tongyan Han , Jing Wang , Xiaomei Tong 

TITLE=Case Report: A Novel Genetic Mutation Causes Idiopathic Infantile Arterial Calcification in Preterm Infants

JOURNAL=Frontiers in Genetics

VOLUME=Volume 12 - 2021

YEAR=2021

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2021.763916

DOI=10.3389/fgene.2021.763916

ISSN=1664-8021

ABSTRACT=Idiopathic infantile arterial calcification (IIAC), also known as generalized arterial calcification of infancy (GACI), is a heritable ectopic mineralization disorder that results in diffuses arterial calcifications and/or stenosis, which are attributed to mutations in the ENPP1 gene. In this case study, we report a case of IIAC in a two-months-old male preterm infant. The patient presented severe hypertension and seizures, further investigation revealed diffused calcifications and c.130C > T and c.1112A > T mutations in the ENPP1 gene. With biphosphonates, antihypertensive, and control epilepsy therapy, his blood pressure was maintained to 110–120/50–60 mmHg. Intellectual motor development retardation was anticipated in the patient. To the best of our knowledge, this is the first case in which a novel c.130C > T mutation in the ENPP1 gene has been identified and the administration of bisphosphonate to patients with IIAC has been assessed.