Table 3

Families with a relatively large number of severely affected individuals

MutationAmino acid changeType of mutationLocationIndividuals with HPEIndividuals without HPE
c.9_12dup4p.Arg6GlyfsX59FrameshiftN terminus4 alobar1 microform
c.136C→Tp.Gln46XNonsenseN terminus1 semilobar; 2 HPE type unknown2 microform
c.383G→Ap.Trp128XNonsenseN terminus3 alobar1 microform
c.664G→Ap.Asp222AsnMissenseC terminus2 semilobar; 7 HPE type unknown3 microform; 1 none; 1 not HPE unknown
  • HPE, holoprosencephaly.