The Bjornstad Syndrome (Sensorineural Hearing Loss and Pili Torti) Disease Gene Maps to Chromosome 2q34-36 José Faibes Lubianca Neto, Leonard Lu, Roland.

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The Bjornstad Syndrome (Sensorineural Hearing Loss and Pili Torti) Disease Gene Maps to Chromosome 2q34-36 José Faibes Lubianca Neto, Leonard Lu, Roland D. Eavey, Marco Antonio Macias Flores, Raul Martinez Caldera, Somkiat Sangwatanaroj, Jean Jacques Schott, Barbara McDonough, Jose Ignatio Santos, Christine E. Seidman, J.G. Seidman The American Journal of Human Genetics Volume 62, Issue 5, Pages 1107-1112 (May 1998) DOI: 10.1086/301837 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigree of the kindred with Bjornstad syndrome. Open symbols = unaffected; solid symbols = affected; stippled = unknown clinical status; squares = men; circles = women; diamond = siblings of generation III not studied; double lines indicate consanguinity (in both cases, the marriages occurred between second cousins); symbols representing deceased individuals are slashed. The American Journal of Human Genetics 1998 62, 1107-1112DOI: (10.1086/301837) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 2 Photograph of an affected member. A, Characteristic short, frizzled hairs and the use of a hearing aid. B, Posterior view of the patient, showing sparse and short hair. The American Journal of Human Genetics 1998 62, 1107-1112DOI: (10.1086/301837) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 3 Scanning electron micrograph of hairs. A, Hair twisted 180° on its own axis (X200). B, Broken hair at a twist (X500). The American Journal of Human Genetics 1998 62, 1107-1112DOI: (10.1086/301837) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 4 Schematic representation of the genotypes of three individuals who were discordant with clinical status in the 5-cM interval between D2S2382 and D2S424. Pedigree identification numbers (ID) and clinical status (clin. stat.: U = unaffected; A = affected) are shown. Black filled bars represent nonconcordance between a DNA locus and disease status; white bars represent concordance; lines represent uninformative genotype. The 3-cM interval containing the Bjornstad syndrome gene is shown. The locations of loci D2S2382, D2S164, D2S2210, D2S1371, D2S173, D2S434, D2S2179, D2S163, D2S120, and D2S424 are taken from the chromosome 2 gene map. The distances between these loci are not drawn to scale. The American Journal of Human Genetics 1998 62, 1107-1112DOI: (10.1086/301837) Copyright © 1998 The American Society of Human Genetics Terms and Conditions