Fig. 3.

Schematic representation of the in-frame mutations identified in families 3 and 4. A) Nucleotide sequence of exon 20 (capital letters) and its flanking intronic regions where the c.2539_2559dup mutation is indicated. The repetitive AGGAGGAGGAG elements that are likely to be involved in the rearrangements are boxed. B) Nucleotide sequence of exon 24 (capital letter), where three deletions and one duplication (c.3142_3162del, c.3164_3205del, and c.3195_3215del/dup) so far identified are indicated. The repetitive that are elements to be likely involved in the rearrangements are boxed or dotted.