TCOF1 and cartilage-hair hypoplasia: Anticipation has been also described for point mutations, insertions, and deletions of a small group of genes including TCOF1, located in 5q32 and mutated in Treacher Collins syndrome (TCS; OMIM 154500) [26]; EBP, a gene located in Xp11.22-p11.23 and mutated in X-chromosomal dominant chondrodysplasia syndrome (CHH, OMIM 302960) [27]; the transthyretin gene (TTR), located in 18q12.1 and mutated in familial amyloid polyneuropathy (FAP, OMIM:176300]) [28]; and copper–zinc superoxide dismutase 1 (SOD1), a gene located in 21q22.1 and mutated in amyotrophic lateral sclerosis (ALS, OMIM 105400).