A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing

Table 1 Summary of clinical features of affected family members with Axenfeld-Rieger syndrome

Affected family members		I-2	II-1	II-2
Currente age (years old)		42	20	14
Onset age (years old)		28	18	11
Gender		F	F	F
Clinical Features
Eye	Iris dysplasia (goniodysgenesis)	+	+	+
	Iris hypoplasia	+	+	+
	Pupil deformation	+	+	+
	Secondary Glaucoma	+	+	+
	Polycoria	+	+	+
	Corectopia (displaced pupils)	+	+	+
	Shallow anterior chamber	+	+	+
Nose	Broad nasal bridge	+/−	+	+
Teeth	Microdontia	+	+	+
Abdomen	Umbilical defect (redundant periumbilical skin)	+	+	+

ISSN: 1471-2350