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Table 3 MLPA abnormalities in 62 unrelated families

From: Neurofibromatosis type 2 (NF2): A clinical and molecular review

MLPA abnormality

Number of occasions (mosaic)

Exon 1-intron1 (deletes intronic CA repeat)

18 (3)

Whole gene (exons 1–17) deletion

16 (2)

Exons 5–17 deletion

3 (2)

Exons 2–3 deletion

2

Exons 2–10 deletion

2

Exons 13–15 deletion

1

Exons 1–16 deletion

2 (1)

Exons 1–10 deletion

3 (1)

Exons 1–3 deletion

1

Exons 1–4 deletion

2 (1)

Exons 1–2 deletion

1 (1)

Exons 15–17 deletion

1

Exons 8–17 deletion

1

Exons 8–15 deletion

1

Exon 3 deletion

1

Exon 7 deletion

1

Exon 5 deletion

1

Exons 12–14 duplication

1

Exons 10–16 duplication

1

Exon 2 deletion

1

Exon 8 deletion

1

Exons 2–4 deletion

1

  1. MLPA- Multiplex Ligation-dependant Probe Amplification