Birkenhäger R, Knapp F B, Klenzner T, Aschendorff A, Schipper J
Universitätsklinik für Hals-, Nasen- und Ohrenheilkunde und Poliklinik, Universitätsklinikum Freiburg.
Laryngorhinootologie. 2004 Dec;83(12):831-5. doi: 10.1055/s-2004-826001.
Pendred-syndrome is an autosomal recessive disease that is classically characterised by sensorineural hearing loss and enlargement of the thyroid gland. The gene SLC26A4/PDS for the pendred-syndrome has been localised by linkage analysis on chromosome 7q31. This protein is expressed in the inner ear, thyroid gland, kidney and placenta. Functional analysis in Xenopus laevis oocytes revealed that it acts as an iodide/chloride and chloride/formate exchanger.
Each of the exons and flanking splice regions of the SLC26A4/PDS gene was analysed by direct sequencing.
In the involved family two heterozygous mutations could be detected which results by combination in hearing loss and deafness.
By evidences of familial background in hearing loss and thyroid disorder it is reasonable to analyse the PDS gene for mutation to have early the possibility for medical care of linguistic development through hearing aid or CI-implantation.
彭德莱德综合征是一种常染色体隐性疾病，其典型特征为感音神经性听力损失和甲状腺肿大。通过连锁分析已将彭德莱德综合征的SLC26A4/PDS基因定位到7号染色体长臂31区。该蛋白在内耳、甲状腺、肾脏和胎盘中表达。在非洲爪蟾卵母细胞中的功能分析表明，它可作为碘化物/氯离子和氯离子/甲酸根离子交换体。
通过直接测序对SLC26A4/PDS基因的每个外显子及其侧翼剪接区域进行分析。
在所研究的家系中检测到两个杂合突变，这些突变共同导致听力损失和耳聋。
鉴于听力损失和甲状腺疾病的家族背景证据，分析PDS基因是否存在突变是合理的，这样可以尽早通过助听器或人工耳蜗植入为语言发育提供医疗护理的可能性。
