Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy

Table 2

Genotyping for a sex associated marker, amelogenin (AMEL), and 10 short tandem repeats to confirm paternity and maternity of an individual with Schnyder corneal dystrophy.

Allelic marker	Father (I/1)		Child (II/2)		Mother (I/2)		Random match probability
AMEL	Y	X	X	X	X	X	N/A
CSF1PO	11	10	10	10	10	12	0.112
D13S317	11	9	9	12	12	11	0.085
D16S539	11	9	9	11	11	12	0.089
D21S11	32.2	30	30	28	28	30	0.039
D5S818	11	11	11	12	12	12	0.158
D7S820	12	8	8	9	9	12	0.065
TH01	6	6	6	6	6	9	0.081
TPOX	9	10	10	11	11	11	0.195
VWA	14	17	17	18	18	14	0.062

Note: there is greater than 99.999% percent probability that both parents are the biological parents.
IDs in parenthesis refer to pedigree in Figure 1.