Table 3 Subjects with positive genetic testing

From: In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics

Subject no.

Gene

Inheritance

Variant

Transcript

Interpretation

13

ZIC2

De novo

c.1095_1096del, p.Cys365*

NM_007129

Pathogenic

16

ZIC2

De novo

c.1148_1464del, p.Ser482Argfs*42

NM_007129

Pathogenic

20

ZIC2

De novo

c.793C>T, p.Gln265*

NM_007129

Pathogenic

15

ZIC2

Unknown

c.1097_1098del, p.Glu366Valfs*2

NM_007129

Pathogenic

14

DISP1

Maternally inherited

c.743C>T:p.Ala248Val

NM_032890

Variant of uncertain significance

11

CNV

Unknown

arr[hg19] 8p21.2-p.21.1(27141452-28479611)x1, 8p12-p11.21(35754100-39710324)x1, 8p11.22-p11.21(39720982-40167696)x3

Pathogenic but association with holoprosencephaly is unclear

  1. CNV, copy-number variant.
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