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Results: 3

1.
<b>Figure 2</b>

Figure 2. From: Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.

 Audiograms showing the six affected people in family 148. Four members (III:3, IV:4, IV:6, and V:3) are heterozygous for the WFS1 mutation and two (IV:11 and IV:12) are homozygous normal. Broken lines indicate the first examination and solid lines the latest examination (age given below each audiogram). Circles and crosses represent air conduction thresholds for the right and left ear, respectively. Audiological information about mutation carriers is summarised in the text (table 2). The audiograms from the WFS1 mutation carriers are described (table 2), and in all instances affect the low frequencies. IV:11 (male, aged 55 years) had a deeply U‐shaped audiogram and progressive HI, and used a hearing aid from 11 years of age. IV:12 (female, aged 44 years) had congenital profound HI and used sign language. She also had cleft palate.

H Eiberg, et al. J Med Genet. 2006 May;43(5):435-440.
2.
<b>Figure 1</b>

Figure 1. From: Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.

 Five generation pedigree for family 148. The STS markers on chromosome 3, 4, and 18 each follow a haplotype map flanking candidate genes: D4S394 (WSF1), D3S3669 (OPA1), D18S450 (OPA4), and D22S275 (OPA5). An asterisk denotes STS marker results that exclude ADOA. STS marker D4S394 segregates together with the combined sensory affections in the members III:3, IV:4, IV:6, and V:3, and does not segregate together with the hearing impairment in III:5, III:7, IV:11, and IV:12. Individuals III:5 and III:7 had age related HI presenting after the age of 70 years (audiological data not shown) preferentially affecting the higher frequencies. V:4 had normal hearing. It was reported that II:2, born in 1881, who died at 78 years of age, had HI at old age. He was one of 10 siblings, of whom a sister (II:3) and a brother (II:4) had HI, as did as their father (I:2).

H Eiberg, et al. J Med Genet. 2006 May;43(5):435-440.
3.
<b>Figure 3</b>

Figure 3. From: Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.

 (A) Sequencing chromatogram of the mutation c.2590 G→A in IV:6. The affected person is heterozygous for the missense mutation E864K and the G→A substitution is denoted by an "R". (B) The mutation segregates with sensorineural hearing loss in family #148. The 783 bp PCR product digested by Bsp1286I presents a 246 bp fragment (69 plus 177 bp) in heterozygotes in addition to the wild type fragments (69, 177, 218, and 319 bp) after separation in 2% agarose gel. Roman numbers above the gel refer to the family pedigree (fig 1). M is the DNA ladder (150, 200, 250, 300 and 400 bp) (C) Alignment of the 11 amino acid codons around the E864K mutation demonstrate conservation of the protein sequence and redundancy in the DNA sequence (sequence data: UCSC Genome Browser;34 (a) Homo sapiens chr4:6368639–6368671, NCBI build 34 July 2003; (b) Mus musculus chr5:35260341–35260373, NCBI build 30 February 2003; (c) Rattus norvegicus chr14:79406244–79406276, HGSC version3.1, Jun 2003; (d) Pan troglodytes chr3:6485955–6485987, NCBI build 1, version 1, November 2003, (e) Gallus gallus chr4:79834614–79834646, galGal, February 2004).

H Eiberg, et al. J Med Genet. 2006 May;43(5):435-440.

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