Smith R J, Coppage K B, Ankerstjerne J K, Capper D T, Kumar S, Kenyon J, Tinley S, Comeau K, Kimberling W J
Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City 52242.
Genomics. 1992 Dec;14(4):841-4. doi: 10.1016/s0888-7543(05)80102-8.
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.
鳃耳肾综合征是一种常染色体显性疾病，估计影响2%的重度耳聋儿童。除听力障碍外，其特征还包括招风耳畸形、耳前凹、鳃裂窦道和肾脏异常。该疾病的发病机制尚不清楚；然而，通过家族连锁研究，缺陷基因已定位到8号染色体长臂。
