Table 1.

Examples of diseases other than cancer associated with somatic genome changes and mosaicism

Type of Instability	Tissue Tested	Examples of Diseases
Single base substitutions and small insertion deletions	Blood	Chronic infantile neurologic cutaneous articular, CHARGE syndrome, Paroxysmal nocturnal hemoglobinuria, Congential central hypoventilatilation syndrome, Costello syndrome, Hemophilia A and B, Hereditary spastic parapelagia, Hunter disease, Hypocalcemia, Loeys-Dietz, Marfans, MYH9 disorders, Neonatal diabetes, Ornithine transcarbamylase deficiency, Retinoblastoma, Rett syndrome, Skeletal dysplasia, von Hippel-Lindau disease
	Skin cells and hair roots	Androgen insensitivity, McCune-Albright syndrome, EEC (ectrodactyly, ectodermal dysplasia, and orofacial clefts), Hutchinson-Gilford progeria, Lesch-Nyhan, Loeys-Dietz, MYH9 disorders, Ornithine transcarbamylase deficiency, X-linked hypophosphatemic rickets
	Buccal cells	Chronic infantile neurologic cutaneous articular (CINCA), Epidermolysis bullosa simplex, Loeys-Dietz, MYH9 disorders
	Cerebral cortex	Alzheimer disease
	Skeletal tissue	Osteogenesis imperfecta
Deletions	Blood	Campomelic dysplasia, Hemophilia A and B, Infantile spinal muscular atrophy, Rubinstein-Taybi, X-linked dyskeratosis congenita
	Skin	Incontinentia pigmenti, Neurofibromatosis 1 and 2
	Nervous system	Autism spectrum disorders, Incontinentia pigmenti, Neurofibromatosis 1 and 2
Duplications	Blood	X linked mental retardation
Repetitive element instability	Blood	Fascioscapular humeral muscular dystrophy

Table adapted from (Erickson, 2003, 2010, 2014, 2016)