Auditory function associated with Col11a1 haploinsufficiency in chondrodysplasia (cho) mice

作者：Szymko Bennett YM; Kurima K; Olsen B; Seegmiller R; Griffith AJ^*

来源：Hearing Research, 2003, 175(1-2): 178-182.

DOI：10.1016/S0378-5955(02)00736-0

• genetic
• hearing
• deafness
• Stickler
• Marshall
• collagen

Heterozygosity for mutations in the fibrillar collagen gene COLIIAl causes sensorineural hearing loss in patients with Stickler syndrome or Marshall syndrome. Chondrodysplasia (cho) is a functional null allele of ColIIal that causes lethal chondrodysplasia in cholcho newborn mice, and osteoarthritis in chol+ heterozygotes. To determine if Col11al haploinsufficiency causes hearing loss in chol+ mice, auditory brainstem response (ABR) thresholds were measured at 2, 4, 6 8 and 10 months of age. There was no difference in ABR thresholds for click and tone burst stimuli between chol+ and +/+ mice at all ages. In contrast to the conclusion of a previous report, our results indicate that Col11al haploinsufficiency does not cause significant hearing loss on the C5713L/6 strain background. We conclude that Stickler syndrome and Marshall syndrome mutations in COL11Al cause hearing loss via dominant negative effects upon wild-type fibrillar collagen polypeptides in the extracellular matrices of the cochlea.

• 出版日期2003-1