A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.

doi:10.1016/j.ajhg.2021.03.007

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Article

A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.

American journal of human genetics - 1 Apr 2021

White Susan M, Bhoj Elizabeth, Nellåker Christoffer, Lachmeijer Augusta M A, Marshall Aren E, Boycott Kym M, Li Dong, Smith Wendy, Hartley Taila, McBride Arran, Ernst Michelle E, May Alison S, Wieczorek Dagmar, Abou Jamra Rami, Koch-Hogrebe Margarete, Õunap Katrin, Pajusalu Sander, van Gassen K L I, Sadedin Simon, Ellingwood Sara, Tan Tiong Yang, Christodoulou John, Barea Jaime, Lockhart Paul J, Nezarati Marjan M, Kernohan Kristin D

Abstract excerpt

The DNA damage-binding protein 1 (DDB1) is part of the CUL4-DDB1 ubiquitin E3 ligase complex (CRL4), which is essential for DNA repair, chromatin remodeling, DNA replication, and signal transduction. Loss-of-function variants in genes encoding the complex components CUL4 and PHIP have been reported to cause syndromic intellectual disability with hypotonia and obesity, but no phenotype has been reported in...

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PMID: 33743206
DOI: 10.1016/j.ajhg.2021.03.007
PMCID: PMC8059373

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