AI Article Synopsis
- PLAGL1 is an imprinted gene that, when its expression is altered, can lead to various health issues affecting growth, metabolism, and behavior.
- Over-expression of PLAGL1 is linked to transient neonatal diabetes mellitus (TNDM type 1), while under-expression is thought to cause growth restriction, although this varies among individuals with related genetic conditions.
- The study reports on three cases involving individuals with growth restriction, contributing additional evidence of PLAGL1's significant role in human growth during prenatal and early postnatal stages.
Article Abstract
PLAGL1 is one of a group of imprinted genes, whose altered expression causes imprinting disorders impacting growth, development, metabolism, and behavior. PLAGL1 over-expression causes transient neonatal diabetes mellitus (TNDM type 1) and, based on murine models, under-expression would be expected to cause growth restriction. However, only some reported individuals with upd(6)mat have growth restriction, giving rise to uncertainty about the role of PLAGL1 in human growth. Here we report three individuals investigated for growth restriction, two with upd(6)mat and one with a mosaic deletion of the paternally-inherited allele of PLAGL1. These cases add to evidence of its involvement in pre- and early post-natal human growth.
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| http://dx.doi.org/10.1002/ajmg.a.63448 | DOI Listing |
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