<unk>  has an autosomal recessive pattern of inheritance.|alt=|frameless<unk>  is classified genetically as follows:{cn}} Type OMIM Gene A ERCC8 (also called<unk> A) B ERCC6 (also called<unk> B) C none known * Mutations in the ERCC8 (also known as<unk> A) gene or the ERCC6 (also known as<unk> B) gene are the cause of<unk> . Mutations in the ERCC6 gene mutation makes up ~70% of cases. The proteins made by these genes are involved in repairing damaged DNA via the transcription-coupled repair mechanism, particularly the DNA in active genes. DNA damage is caused by ultraviolet rays from sunlight, radiation, or free radicals in the body. A normal cell can repair DNA damage before it accumulates. If either the ERCC6 or the ERCC8 gene is altered (as in<unk> , DNA damage encountered during transcription isn't repaired, causing RNA polymerase to stall at that location, interfering with gene expression. As the unrepaired DNA damage accumulates, progressively more active gene expression is impeded, leading to malfunctioning cells or cell death, which likely contributes to the signs of<unk>  such as premature aging and neuronal hypomyelination.
Cockayne syndrome
Xeroderma pigmentosum
ATR-X syndrome
ATR-16 syndrome
Cornelia de Lange syndrome
MEDNIK syndrome
Treacher Collins syndrome
LIG4 syndrome