Table 2.

Ptf1a spontaneous mutations and diseases

Species	Mutation position	Mutation type	Hetero- or homozygous	Diseases/defects	References
Mouse	A retrotransposon insertion at 12 kb upstream of Ptf1a	Insertional mutation causing Ptf1a gain-of-function	Heterozygous	Danforth’s short tail, characterized by spinal defects, kidney agenesis and anorectal malformations	[111–113, 126]
Human	p.R296X	Nonsense mutation causing PTF1A truncation	Homozygous	Diabetes mellitus, cerebellar agenesis, and more	[97]
	p.P236fsX270	Insertional mutation causing PTF1A frameshift and truncation	Homozygous	Diabetes mellitus, cerebellar agenesis, and more	[97]
	p.G240fsX276	Frameshift causing PTF1A truncation	Homozygous	Diabetes mellitus, cerebellar agenesis, craniofacial defects, irregular breathing and more	[114]
	p.A146_R154delfsX115	Deletional mutation causing PTF1A frameshift and truncation	Homozygous	Diabetes mellitus, cerebellar agenesis, craniofacial defects, irregular breathing, optic atrophy and more	[115]
	p.P191T	Missense mutation causing hypomorphic PTF1A	Homozygous	Diabetes mellitus	[116]
	A conserved regulatory sequence at 25 kb downstream of PTF1A	Point mutations or deletions in the distal pancreatic-specific enhancer	Homozygous, or compound heterozygous	Pancreatic agenesis	[15, 16]
	p.A146GfsX116 and g.23508442A > G	A frameshift and truncation mutation in PTF1A coding region in the chromosome. A point mutation at distal enhancer in the sister chromosome	Compound heterozygous	Pancreatic agenesis	[117]
	Unknown	Unknown mutation(s) leading to hypomorphic PTF1A in acinar cells	Unknown, possibly homozygous or compound heterozygous	Pancreatic cancer	[118–120]