Björnstad syndrome

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Björnstad syndrome

Björnstad syndrome is an autosomal recessive congenital condition involving pili torti[1] and nerve deafness and hair abnormalities.

It was first characterized in 1965, in Oslo, by prof. Roar Theodor Bjørnstad (1908–2002).[2]

It has been mapped to BCS1L.[3] Hearing disabilities related to Björnstad syndrome are congenital, and the severity of the deafness varies from person to person. Pili torti is recognized in early childhood and is characterised by twisted hair shafts and brittle hair.[4]The hearing loss usually becomes evident very early in life, often in the first year. It is caused by mutations in the BCS1L gene which also cause GRACILE syndrome.[5]

References[edit]

  1. ^ Siddiqi, Saima; Siddiq, Saadat; Mansoor, Atika; Jaap, Oostrik; Nafees, Ahmad; Syed Ali, Raza Kazmi; Hannie, Kremer; Raheel, Qamar; Margit, Schraders (December 1, 2013). "Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome". Journal of Human Genetics. 12 (58): 819–820. doi:10.1038/jhg.2013.101. 
  2. ^ Bjornstad, R. Pili torti and sensory-neural loss of hearing. Proc. 7th Meeting Northern Derm. Soc., Copenhagen May-29, 1965.
  3. ^ Hinson JT, Fantin VR, Schönberger J, et al. (February 2007). "Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome". N. Engl. J. Med. 356 (8): 809–19. doi:10.1056/NEJMoa055262. PMID 17314340. 
  4. ^ Hinson, J. Travis; Fantin, Valeria R.; Schönberger, Jost; Breivik, Noralv; Siem, Geir; McDonough, Barbara; Sharma, Pankaj; Keogh, Ivan; Godinho, Ricardo; Santos, Felipe; Esparza, Alfonso; Nicolau, Yamileth; Selvaag, Edgar; Cohen, Bruce H.; Hoppel, Charles L.; Tranebjærg, Lisbeth; Eavey, Roland D.; Seidman, J.G.; Seidman, Christine E. (22 February 2007). "Missense Mutations in the BCS1L Gene as a Cause of the Björnstad Syndrome". New England Journal of Medicine. 356 (8): 809–819. doi:10.1056/NEJMoa055262. ISSN 0028-4793. PMID 17314340. 
  5. ^ "Bjornstad syndrome". NCATS. Genetic and rare diseases information center. Retrieved 17 April 2018. 

External links[edit]

Classification