AI Article Synopsis
- Silver Russell syndrome (SRS) is a genetic disorder that leads to growth issues both before and after birth, including difficulties with feeding and overall growth.
- Some cases involve variants in the PLAG1 gene, which is linked to reduced levels of a growth factor called Insulin-like growth factor 2.
- The report discusses a 26-month-old girl who shows symptoms of SRS and has a new deletion of 2.1 Mb that includes the PLAG1 gene, supporting its connection to the disorder.
Article Abstract
Silver Russell syndrome (SRS) is a congenital disorder characterized by intrauterine growth retardation (IUGR), feeding difficulties and postnatal growth retardation. In a small number of cases, PLAG1 variants have been described (OMIM #618907). PLAG1 haploinsufficiency decreases Insulin-like growth factor 2 expression and produces a Silver Russell syndrome-like phenotype. Here, we describe the phenotype and molecular features of a 26 months girl with clinical features of SRS, and a de novo 2.1 Mb deletion encompassing PLAG1 is reported in association with clinical features suggestive of SRS.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1097/MCD.0000000000000375 | DOI Listing |
Publication Analysis
Top Keywords
silver russell
12
russell syndrome
8
deletion encompassing
8
encompassing plag1
8
growth retardation
8
clinical features
8
syndrome preterm
4
preterm girl
4
girl 8q121
4
8q121 deletion
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!