The first one is a single nucleotide variant ((NM_000124.4): c.1992+3A>G) in ERCC6 (ERCC excision repair 6, chromatin remodeling factor) gene coding for a protein involved in the transcription-coupled nucleotide excision repair and mostly associated with rare Cockayne syndrome type B (CSB) (OMIM: 133540) [23]. This evidence concerns the gene ERCC6 and Cockayne syndrome type 2.