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

From: Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics

Mutation Mode of inheritance Clinical features Reference
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
  1. Mutation nomenclature is based on reference transcript NM_005029.3 and the HGVS guidelines.
  2. ADCC: autosomal dominant congenital cataract; PPC: posterior polar cataract; ASD: anterior segment dysgenesis; PSC: posterior subcapsular cataract.