A Gene for Fluctuating, Progressive Autosomal Dominant Nonsyndromic Hearing Loss, DFNA16, Maps to Chromosome 2q23-24.3 Kunihiro Fukushima, Norio Kasai,

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Copyright © 2000 American Medical Association. All rights reserved.

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A Gene for Fluctuating, Progressive Autosomal Dominant Nonsyndromic Hearing Loss, DFNA16, Maps to Chromosome 2q23-24.3 Kunihiro Fukushima, Norio Kasai, Yasuyoshi Ueki, Kazunori Nishizaki, Kennichi Sugata, Satoshi Hirakawa, Akemi Masuda, Mehmet Gunduz, Yoshifumi Ninomiya, Yu Masuda, Minako Sato, Wyman T. McGuirt, Paul Coucke, Guy Van Camp, Richard J.H. Smith The American Journal of Human Genetics Volume 65, Issue 1, Pages 141-150 (July 1999) DOI: 10.1086/302461 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 DFNA16 pedigree showing haplotypes assigned to minimize the number of recombination events (blackened circles denote affected females, and blackened squares denote affected males). The map and map distances are shown in the square at the upper right (National Center for Biotechnology Information, Entrez; Whitehead Institute for Biomedical Research/MIT Center for Genome Research). Paternal crossovers in II-1, II-3, and II-5 are indicated by a horizontal line; ages at last audiogram are as follows: IV-2, 15 years; IV-3, 21 years; IV-7, 16 years; IV-9, 11 years. Response to steroids was clinically documented in III-4, III-7, IV-1, IV-6, and IV-8; similar data were not available for III-4, III-6, IV-4, and IV-5; generations I and II were profoundly deaf with no recent fluctuations in hearing. IV-2 and IV-9 have critical recombinants that could affect the linked interval significantly; if IV-9 remains unaffected, the critical interval would be distal to marker D2S124 and would not include D2S2380. II-5 represents a double recombination event (confirmed several times). The American Journal of Human Genetics 1999 65, 141-150DOI: (10.1086/302461) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 Audiogram of IV-6 at initial presentation (a) and after the second (b) and last (c) episode of fluctuating hearing loss. The graph summarizes chronological changes in hearing levels over a 27-mo period (circles and triangles represent right- and left-ear hearing levels, respectively, at 2,000 Hz pure-tone stimulus, and horizontal bars at the bottom (d) indicate periods of steroid therapy. The American Journal of Human Genetics 1999 65, 141-150DOI: (10.1086/302461) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 3 Computed tomography of temporal bone of IV-6 in axial (a) and sagittal (b) planes, showing no evidence of a dilated vestibular aqueduct. The American Journal of Human Genetics 1999 65, 141-150DOI: (10.1086/302461) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 4 Audiogram of IV-8 at initial presentation (a) and after second (b) and last (c) episode of fluctuating hearing loss. The graph summarizes chronological changes in hearing levels over a 30-mo period (circles and triangles represent right- and left-ear hearing levels, respectively, at 2,000 Hz pure-tone stimulus, and horizontal bars at the bottom indicate periods of steroid therapy (d). The American Journal of Human Genetics 1999 65, 141-150DOI: (10.1086/302461) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 5 Audiograms of IV-4 at age 16 years and IV-5 at age 13 years. (Compare these results with those for IV-6 at age 13 years [fig. 2c] and IV-8 at age 10 years [fig. 4c].) The American Journal of Human Genetics 1999 65, 141-150DOI: (10.1086/302461) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 6 Multipoint-LOD-score results over interval defined in figure 1. The American Journal of Human Genetics 1999 65, 141-150DOI: (10.1086/302461) Copyright © 1999 The American Society of Human Genetics Terms and Conditions