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Figure 3 | Orphanet Journal of Rare Diseases

Figure 3

From: New clinical and molecular insights on Barth syndrome

Figure 3

Schematic representation of the TAZ deletions involving exons 6–11. A) Relative location of AluY repeats downstream of the exon 5 donor splice site and downstream of the exon 11 donor splice site which are postulated to have been involved in the NAHR event causing the g.8009_16445del8437 mutation identified in Pt1. B) Relative locations of the breakpoint junctions of the deleted regions identified in Pt2 (one 38 bp deletion and one >4 kb deletion). Microhomologies that could have primed the sequential slippage events at the origin of g.[9777_9814del38; 9911-?_14402del] are indicated.

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