Prenatal diagnosis of Silver-Russell syndrome with 8q12 deletion including the PLAG1 gene: a case report and review

• Published in: Frontiers in genetics Vol. 15; p. 1387649
• Main Authors: Wu, Ke, Zhu, Yuying, Zhu, Qiumin
• Format: Journal Article
• Language: English
• Published: Switzerland Frontiers Media S.A 17.05.2024
• Subjects: chromosome 8q12; loss-of-function; obstetrics department; PLAG1; Silver–Russell syndrome; chromosome 8q12; Silver–Russell syndrome; obstetrics department; loss-of-function; PLAG1
• ISSN: 1664-8021; 1664-8021
• DOI: 10.3389/fgene.2024.1387649

Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous disorder. A retrospective analysis predicted that the live birth prevalence of SRS in Estonia is 1:15,886 [Yakoreva et al., Eur J Hum Genet, 2019, 27(11), 1649-1658]. The most common causative genetic mechanism in the proband is loss of paternal methylation in the imprinted control region 1 (ICR1) at 11p15.5 chromosome. A few studies suggested that inherited or loss-of-function alterations of the gene, including the whole-gene deletion and intragenic pathogenic variants, could cause a rare type of SRS. To date, less than 20 unrelated -related SRS cases have been reported, and the clinical information about these cases is limited. We report the first prenatal case of SRS with 8q12 deletion (including the gene). The fetus presented with intrauterine growth retardation, small for gestational age, relative macrocephaly at birth, and a protruding forehead. Unlike classical SRS cases, the fetus had micrognathia and did not show body asymmetry. We hope that the literature review in this study provides new insights into genotype-phenotype relationships of -related SRS.