Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C

RNA polymerase III-related or 4H (POLR3-HLD) is a genetic disorder that affects the white matter of the brain. It is caused by disease-causing variants in POLR3A, POLR3B, POLR1C or POLR3K. To this date, description of craniofacial features in individuals with POLR3-HLD is limited. Here, we explore and assess the craniofacial features of 31 patients with POLR3-HLD. We also propose correlations between craniofacial features and underlying disease-causing genes. This report will assist physicians in recognizing patients with POLR3-HLD, allowing for an early diagnosis. It will also contribute to our understanding of disease mechanisms, an important step in developing disease modifying therapies.  (By Amytice Mirchi, https://jmg.bmj.com/content/early/2023/05/16/jmg-2023-109223 )

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