Bjornstad syndrome

Definition:

Bjornstad syndrome is an autosomal recessive combination of congenital sensorineural hearing loss and pili torti. It is caused by mutations in BCS1L encoding a protein that is necessary for the assembly of complex III in the mitochondria.

References:

[1]. J F Lubianca Neto, et al. 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. [Content Brief]

[2]. J Travis Hinson, et al. Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. N Engl J Med. 2007 Feb 22;356(8):809-19. [Content Brief]

[3]. Kristen A Richards, et al. Three members of a family with pili torti and sensorineural hearing loss: the Bjornstad syndrome. J Am Acad Dermatol. 2002 Feb;46(2):301-3. [Content Brief]

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