Code Individual Age Sex Phenotype Gene Genotype Remarks
STU-29 STU-29 STU-29 STU-29 STU-29 STU-29 STU-29
II-2
Father
45
M
Affected
GNPTAB
c.3598G>A/+
Cosegregation of the pathogenic allele suggests a dominant inheritance pattern Familial non consanguineous
II-4 Mother 38 F Unaffected +/+
III-4 Brother 20 M Affected c.3598G>A/+
III-6 Sister 17 F Unaffected +/+
III-7 Proband 16 M Affected c.3598G>A/+
III-8 Younger brother 15 M Unaffected +/+
STU-63 STU-63 STU-63 STU-63 STU-63 STU-63 STU-63
II-5
Father
50
M
Unaffected
GNPTG
+/+
de novo variation Sporadic non consanguineous
II-10 Mother 45 F Unaffected +/+
III-1 Proband 24 M Affected c.802A>C/+
III-2 Sister 19 F Unaffected +/+
STU-34 STU-34 STU-34 STU-34 STU-34 STU-34 STU-34
II-5
Father
50
M
Unaffected
NAGPA
c.131G>C/+
The variation does not cosegregate with affected status Sporadic non consanguineous
II-6 Mother 40 F Unaffected +/+
III-3 Brother 18 M Unaffected c.131G>C/+
III-4 Proband 14 M Affected c.131G>C/+
III-5 Younger brother 11 M Unaffected DNA unavailable