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GENATLAS PHENOTYPE
last update : 29-11-2010
Symbol DFNBPT
Location 2q35
Name neurosensory deafness, prelingual
Other name(s)
  • pili torti and nerve deafness
  • Bjornstad syndrome
  • Corresponding gene BCS1L
    Other symbol(s) SHLPT, PTD
    Main clinical features
  • characterized by sensorineural hearing loss and pili torti
  • hearing loss is congenital and of variable severity; pili torti (twisted hairs), a condition in which the hair shafts are flattened at irregular intervals and twisted 180 degrees from the normal axis, making the hair very brittle
  • Genetic determination autosomal recessive
    Function/system disorder connective tissue
    ear
    Type disease
    Remark(s)
  • mutations altering residues involved in protein-protein interactions
  • cytosolic accumulation of the BCS1L protein mutant, suggestive of an impaired mitochondrial import, assembly or stability defects of the BCS1L complex, fragmentation of the mitochondrial networks, and decreased MFN2 protein levels (PMID: 20518024))