P. M. Kelley, D. J. Harris, B. C. Comer, J. W. Askew, T. Fowler, S. D

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Novel Mutations in the Connexin 26 Gene (GJB2) That Cause Autosomal Recessive (DFNB1) Hearing Loss P.M. Kelley, D.J. Harris, B.C. Comer, J.W. Askew, T. Fowler, S.D. Smith, W.J. Kimberling The American Journal of Human Genetics Volume 62, Issue 4, Pages 792-799 (April 1998) DOI: 10.1086/301807 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigree and sequence summary for families with 101T→C. Below the pedigrees are shown the sequences of the individual patients, at position 101 or 283 (position 1 is the first base in the first codon of GJB2), derived from PCR amplimer CxG4352-U/Cx873-L by use of Cx26A-U as the sequencing primer, for family 1617, and the base at position 101, for family 1619. The family number is given above each pedigree. The American Journal of Human Genetics 1998 62, 792-799DOI: (10.1086/301807) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 2 Sequences of novel missense mutations. Electropherograms from an ABI 377XL DNA sequencer are shown. An arrow indicates the location of the base change. The American Journal of Human Genetics 1998 62, 792-799DOI: (10.1086/301807) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 3 Pedigrees of RNSHL families and individual sequence summaries. Below the pedigrees are shown the sequences of the individual patients, at the positions indicated, derived from PCR amplimer CxG4352-U/Cx873-L by use of Cx26A-U or Cx432-U as the sequencing primer. A hyphen (-) indicates the deletion allele; and a plus sign (+) indicates the normal sequence. The family number is given above each pedigree. No DNA was available from the second affected son in family 1692, and, therefore, the sequence is marked “nd,” for “not done.” The American Journal of Human Genetics 1998 62, 792-799DOI: (10.1086/301807) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 4 Sequences of novel small-deletion mutations. Electropherograms from an ABI 377XL DNA sequencer are shown. An arrow indicates the location of the deletion. The American Journal of Human Genetics 1998 62, 792-799DOI: (10.1086/301807) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 5 Schematic representation of Cx26 and its mutations. NT = N-terminal domain; M1, M2, M3, and M4 = transmembrane domains; E1 and E2 = extracellular domains; CL = cytoplasmic linking domain; and CT = C-terminal domain. Underlined numbers next to a frameshift or deletion arrow indicate the number of residues, after the frameshift, before a termination codon is found. The polypeptide chain is numbered every 20th residue. Mutation type is designated according to the key at the bottom of the figure. The American Journal of Human Genetics 1998 62, 792-799DOI: (10.1086/301807) Copyright © 1998 The American Society of Human Genetics Terms and Conditions