Björnstad syndromeQ87.8

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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HistoryThis section has been translated automatically.

Björnstad, 1965

DefinitionThis section has been translated automatically.

Autosomal recessive malformation characterized by a combination of pili torti with congenital sensorineural hearing loss. Normal intelligence development.

EtiopathogenesisThis section has been translated automatically.

Mutation of the BCS1L gene located on chromosome 2q34-36. BCS1L encodes a member of the AAA family of ATPases, which are necessary for certain complexes in mitochondria and thus for their function.

LiteratureThis section has been translated automatically.

  1. Aggarwal D et al (2004) Bjornstad syndrome (2004) Indian J Pediatr 71: 759-761
  2. Hinson JT et al (2007) Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. N Engl J Med 356: 809-819

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer