Table 1 Overview of the different PITX3 mutations described in human and associated phenotypic details

c.38G > A, p.(Ser13Asn)

Dominant

Mother and son with ADCC and glaucoma at a later age.

7

c.542del, p.(Pro181Leufs*128)

Dominant

Four-generation English family with isolated PPC.

26

c.573del, p.(Ser192Alafs*117)

Dominant

Belgo-Romanian family with ADCC. Two individuals also have ASD.

This study, Family 5

c.640_656dup, p.(Gly220Profs*95)

Dominant

Six-generation family with ADCC and ASD.

7

Four-generation English family with PPC. One individual also has ASD and congenital glaucoma.

18, 19

Four-generation English family with PPC. Four individuals also have ASD.

18, 19

Five-generation English family with isolated PPC.

18, 19

Four-generation Chinese family with isolated PPC.

18

Four-generation British/German family with isolated PPC.

20

Five-generation English family with isolated PPC.

21

Four-generation Australian family with PSC. Seven individuals also have ASD.

23, 24

Three-generation Belgian family with PSC. Two individuals also have ASD.

This study, Family 1

Three-generation Belgian family with ADCC. One individual also has ASD.

This study, Family 2

Four-generation Belgian family with PSC. One individual also has ASD.

This study, Family 3

Three-generation Belgian family with ADCC. One individual also has ASD.

This study, Family 4

c.640_656del, p.(Ala214Argfs*42)

Recessive

Daughter from healthy first cousin parents with ASD and severe congenital microphthalmia.

25

c.650del, p.(Gly217Alafs*92)

Dominant

Four-generation Hispanic family with isolated cataract.

18

Dominant/recessive

Three-generation Lebanese family with PPC. Two brothers from a consanguineous mating showed a more severe ocular and neurologic phenotype in addition to PPC.

22

Microdeletion of 10q24.32 encompassing PITX3

De novo

Patient with Smith–Magenis syndrome-like behavioural abnormalities, intellectual disability and dysmorphic features but no eye phenotype.

41