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. 2011 Apr 4;108(16):6543–6548. doi: 10.1073/pnas.1103471108

Fig. 1.

Fig. 1.

Identification of mutations in HARS2 in a family with Perrault syndrome. (A) A nonconsanguineous family of French, Irish, and Scottish ancestry, with Perrault syndrome in 5 of 11 siblings. Affected siblings are compound heterozygotes for mutations in HARS2. (B) Progressive hearing loss in the affected individuals, measured by pure tone audiometry as described by Pallister and Opitz (11). (C) Paternal allele chr5:140,075,395C > G, corresponding to HARS2 c.598C > G, and maternal allele chr5:140,076,926, corresponding to HARS2 c.1102G > T. (D) Sequence from cDNA from lymphoblasts of II-1, indicating that HARS2 c.598C > G yields two transcripts, encoding HARS2 p.L200V and HARS2 p.Δ200–211. (E) The paternal allele HARS2 c.598C > G encodes HARS2 p.Δ200–211 and HARS2 p.L200V. The proportion of HARS2 c.598C > G transcripts encoding HARS2 p.Δ200–211 is significantly lower for the unaffected father I-1 than for his affected children II-1, II-4, II-7, and II-8 (P = 0.009). Transcripts were derived from lymphoblast cDNA. P value for the comparison is based on the Z score for significance of a difference between independent proportions.