Hearing loss in biotinidase deficiency: genotype-phenotype correlation.
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.
Sivri
Hatice Serap Kalkanoğlu
HS
Hacettepe University, Department of Pediatrics, Nutrition & Metabolism Unit, Ankara, Turkey.
Genç
Gülsüm Aydan
GA
Tokatli
Ayşegül
A
Tokatlý
Ayşegül
A
Dursun
Ali
A
Coşkun
Turgay
T
Aydin
Halil Ibrahim
HI
Aydýn
Halil Ybrahim
HY
Sennaroğlu
Levent
L
Belgin
Erol
E
Jensen
Kevin
K
Wolf
Barry
B
D000293:Adolescent; D017668:Age of Onset; D028921:Biotinidase Deficiency / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D005838:Genotype; D034381:Hearing Loss / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D010641:Phenotype