Table 2

Audiological features in 14 NF2 patients presenting with presymptomatic VS on MRI scan

 CaseSexSideAge at MRI diagnosis (y)Pure tone audioABR at MRI diagnosisABR 12 months laterPrevious normal MRI (y)Size of VS on MRI (mm)Mutation
1MLeft16.9NormalNormalAbnormalNo4 mmYes2-152
RightNormalNormalAbnormalNo1 mm
2FLeft18.2NormalNormalAbnormalYes (16)3 mmYes2-152
RightNormalNormalAbnormalYes2 mm
3FLeft12.4NormalNormalNormalYes (10)1 mmNo
RightNormalAbnormalAbnormalYes2 mm
4MLeft12.5NormalAbnormalAbnormalNo15 mmNo
RightAbnormalAbnormalAbnormalNo9 mm
5FLeft25.3NormalNormalNot doneYes (23)1 mmYes2-152
RightNormalNormalNot doneYesNil
6MLeft15.5NormalAbnormalAbnormalNo7 mmYes2-153
RightNormalNormalAbnormalNo4 mm
7FLeft14.0NormalNormalNot doneNo4 mmYes2-153
RightNormalNormalNot doneNo3 mm
8MLeft27.8AbnormalAbnormalNot doneNo12 mmYes2-153
RightAbnormalNormalNormal2-150 No5 mm
9MLeft15.5NormalAbnormalNot doneNo13 mmYes2-154
RightNormalAbnormalNot doneNo9 mm
10FLeft16.6NormalNormalAbnormalNo8 mmYes2-154
RightNormalNormalAbnormalNo6 mm
11MLeft25.9NormalAbnormalNot doneNo10 mmNo
RightNormalAbnormalNot doneNo18 mm
12MLeft12.4NormalAbnormalAbnormalYes (CT 11)2-151 8 mmYes2-154
RightNormalAbnormalAbnormalYes10 mm
13MLeft13NormalAbnormalNot doneNo18 mmYes2-154
RightNormalAbnormalNot doneNo12 mm
14MLeft12.1NormalNormalNormalNo2 mmNo
RightNormalNormalNormalNo3 mm
  • Patients 1 and 2, 3 and 4, 6 and 7, and 9 and 10 are sibs.

  • 2-150 ABR performed 6 years later.

  • 2-151 ABR abnormal.

  • 2-152 Missense mutation.

  • 2-153 Large deletion.

  • 2-154 Splice site mutation.