Published Date: January 22, 2024

Full Text Article

Clinical and Molecular Characterization of a Patient with Generalized Arterial Calcification of Infancy Caused by Rare <em>ABCC6</em> Mutation

Authors: Ruen Yao, Fan Yang, Qianwen Zhang, Tingting Yu, Ying Yu, Guoying Chang, Xiumin Wang

J Pers Med. 2023 Dec 30;14(1):54. doi: 10.3390/jpm14010054.


Generalized arterial calcification of infancy (GACI) is a rare autosomal-recessive disease characterized by extensive arterial calcification in infancy, with clinical manifestations such as arterial stenoses and heart failure. The ENPP1 inactivation mutation has been identified as a potential defect in most of the cases of GACI, while mutations in ABCC6 are demonstrated in patients who are genotyped as pseudoxanthoma elasticum and only limited cases of GACI are reported. Whole-exome sequencing was applied for the detection of pathogenic variants. Copy-number variants of pathogenic genes were also evaluated through a bioinformatic process and were further validated by real-time quantitative PCR. In this report, we described the clinical information and treatment of a patient with extensive arterial calcification. We have identified the underlying cause as biallelic mutations in ABCC6 (NM_00117: exon30, c.4223_4227dupAGCTC p.(Leu1410Serfs*56)) and a unique exonic deletion that spans from the first to the fourth exons of ABCC6 (chr16:16313388-16330869)). This discovery was made by utilizing a combined genetic testing approach. With the review of previously reported GACI patients with ABCC6 mutation, our work contributed to enriching the mutation spectrum of GACI and providing further information on this rare form of inherited disorder.

PMID: 38248755DOI: 10.3390/jpm14010054PMC: PMC10817667