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. 2005 Sep 29;77(5):795–806. doi: 10.1086/497708

Figure 4.

Figure 4

RMRP gene mutations identified in anauxetic dysplasia patients of families 1–3 and their evolutionary conservation in various orthologs. Affected members of family 1 were homozygous for a 14-bp insertion at position 111_112 (A), affected members of family 2 were compound heterozygous for the mutations +90_91AG→GC (B) and +14G→A (C), and patient 3 was compound heterozygous for the +90_91AG→GC mutation (B) and for a +254C→G mutation (D). E, Significant decrease in RMRP expression of the +14G→A mutant allele (*), as revealed by RT-PCR in the patient of family 2.