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The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36.
Am J Hum Genet. 1998 May; 62(5):1107-12.AJ

Abstract

We report that the Bjornstad syndrome gene maps to chromosome 2q34-36. The clinical association of sensorineural hearing loss with pili torti (broken, twisted hairs) was described >30 years ago by Bjornstad; subsequently, several small families have been studied. We evaluated a large kindred with Bjornstad syndrome in which eight members inherited pili torti and prelingual sensorineural hearing loss as autosomal recessive traits. A genomewide search using polymorphic loci demonstrated linkage between the disease gene segregating in this kindred and D2S434 (maximum two-point LOD score = 4.98 at theta = 0). Haplotype analysis of recombination events located the disease gene in a 3-cM region between loci D2S1371 and D2S163. We speculate that intermediate filament and intermediate filament-associated proteins are good candidate genes for causing Bjornstad syndrome.

Authors+Show Affiliations

Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02115, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

9545407

Citation

Lubianca Neto, J F., et al. "The Bjornstad Syndrome (sensorineural Hearing Loss and Pili Torti) Disease Gene Maps to Chromosome 2q34-36." American Journal of Human Genetics, vol. 62, no. 5, 1998, pp. 1107-12.
Lubianca Neto JF, Lu L, Eavey RD, et al. The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36. Am J Hum Genet. 1998;62(5):1107-12.
Lubianca Neto, J. F., Lu, L., Eavey, R. D., Flores, M. A., Caldera, R. M., Sangwatanaroj, S., Schott, J. J., McDonough, B., Santos, J. I., Seidman, C. E., & Seidman, J. G. (1998). The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36. American Journal of Human Genetics, 62(5), 1107-12.
Lubianca Neto JF, et al. The Bjornstad Syndrome (sensorineural Hearing Loss and Pili Torti) Disease Gene Maps to Chromosome 2q34-36. Am J Hum Genet. 1998;62(5):1107-12. PubMed PMID: 9545407.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36. AU - Lubianca Neto,J F, AU - Lu,L, AU - Eavey,R D, AU - Flores,M A, AU - Caldera,R M, AU - Sangwatanaroj,S, AU - Schott,J J, AU - McDonough,B, AU - Santos,J I, AU - Seidman,C E, AU - Seidman,J G, PY - 1998/5/23/pubmed PY - 2000/3/21/medline PY - 1998/5/23/entrez SP - 1107 EP - 12 JF - American journal of human genetics JO - Am J Hum Genet VL - 62 IS - 5 N2 - We report that the Bjornstad syndrome gene maps to chromosome 2q34-36. The clinical association of sensorineural hearing loss with pili torti (broken, twisted hairs) was described >30 years ago by Bjornstad; subsequently, several small families have been studied. We evaluated a large kindred with Bjornstad syndrome in which eight members inherited pili torti and prelingual sensorineural hearing loss as autosomal recessive traits. A genomewide search using polymorphic loci demonstrated linkage between the disease gene segregating in this kindred and D2S434 (maximum two-point LOD score = 4.98 at theta = 0). Haplotype analysis of recombination events located the disease gene in a 3-cM region between loci D2S1371 and D2S163. We speculate that intermediate filament and intermediate filament-associated proteins are good candidate genes for causing Bjornstad syndrome. SN - 0002-9297 UR - https://wwww.unboundmedicine.com/medline/citation/9545407/The_Bjornstad_syndrome__sensorineural_hearing_loss_and_pili_torti__disease_gene_maps_to_chromosome_2q34_36_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)61532-8 DB - PRIME DP - Unbound Medicine ER -