title: The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36.
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.affiliation: Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02115, USA.
authors.forename: J F
authors.initials: JF
authors.lastname: Lubianca Neto
authors.forename: L
authors.initials: L
authors.lastname: Lu
authors.forename: R D
authors.initials: RD
authors.lastname: Eavey
authors.forename: M A
authors.initials: MA
authors.lastname: Flores
authors.forename: R M
authors.initials: RM
authors.lastname: Caldera
authors.forename: S
authors.initials: S
authors.lastname: Sangwatanaroj
authors.forename: J J
authors.initials: JJ
authors.lastname: Schott
authors.forename: B
authors.initials: B
authors.lastname: McDonough
authors.forename: J I
authors.initials: JI
authors.lastname: Santos
authors.forename: C E
authors.initials: CE
authors.lastname: Seidman
authors.forename: J G
authors.initials: JG
authors.lastname: Seidman
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D005260:Female; D006197:Hair / Q000002:abnormalities* / Q000648:ultrastructure; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D013577:Syndrome