Hearing loss in biotinidase deficiency: genotype-phenotype correlation

J Pediatr. 2007 Apr;150(4):439-42. doi: 10.1016/j.jpeds.2007.01.036.

Abstract

Children with symptoms of profound biotinidase deficiency with null mutations are more likely to have hearing loss develop than those with missense mutations, even if not treated for a period of time. Hearing loss appears to be preventable in children with null mutations if treatment is initiated soon after birth.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Age of Onset
  • Biotinidase Deficiency / diagnosis
  • Biotinidase Deficiency / genetics*
  • Biotinidase Deficiency / therapy
  • Child, Preschool
  • Consanguinity
  • Female
  • Frameshift Mutation / genetics
  • Genotype
  • Hearing Loss / diagnosis
  • Hearing Loss / genetics*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mutation, Missense / genetics
  • Phenotype