Localization of the gene for branchiootorenal syndrome to chromosome 8q.
Branchiootorenal syndrome is an autosomal dominant disorder that affects an estimated 2% of profoundly deaf children. In addition to hearing impairment, it is characterized by a lop-ear deformity, preauricular pits, branchial cleft sinus tracts, and renal anomalies. The pathogenesis of the disease remains unknown; however, the defective gene has been localized to chromosome 8q by family linkage studies.
Smith
R J
RJ
Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City 52242.
Coppage
K B
KB
Ankerstjerne
J K
JK
Capper
D T
DT
Kumar
S
S
Kenyon
J
J
Tinley
S
S
Comeau
K
K
Kimberling
W J
WJ
D000015:Abnormalities, Multiple / Q000235:genetics*; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8; D004276:DNA, Satellite; D004423:Ear / Q000002:abnormalities*; D005260:Female; D006311:Hearing Disorders / Q000235:genetics*; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D013577:Syndrome
D004276:DNA, Satellite