Kopp P
Division of Endocrinology, Metabolism & Molecular Medicine, Northwestern University, Chicago, Illinois 60611, USA.
Thyroid. 1999 Jan;9(1):65-9. doi: 10.1089/thy.1999.9.65.
Pendred's syndrome is an autosomal recessive disease characterized by goiter and congenital sensorineural deafness. Most patients with Pendred's syndrome are euthyroid, but the perchlorate test is positive indicating an impaired iodide organification. The sensorineural deafness is typically associated with a malformation of the inner ear, referred to as Mondini cochlea. The incidence of Pendred's syndrome is thought to be as high as 7.5 to 10 in 100,000 individuals, and it has been estimated to account for about 10% of the cases with hereditary deafness. Linkage of Pendred's syndrome to chromosome 7q22-31.1 was first established in 1996, and the Pendred's syndrome gene (PDS gene) was cloned in 1997. The PDS gene encodes pendrin, a highly hydrophobic 780 aminoacid protein with 11 transmembrane domains. Its function is unknown. Sequence comparison reveals a very high homology to several sulfate transporters suggesting that it could be a sulfate or anion transporter. A wide spectrum of mutations in the PDS gene has now been associated with Pendred's syndrome. Molecular analysis of the PDS gene is useful to make a definite diagnosis in familial and sporadic cases with Pendred's syndrome, and will be helpful for determining the true prevalence of this disorder.
彭德莱德综合征是一种常染色体隐性疾病，其特征为甲状腺肿和先天性感音神经性耳聋。大多数彭德莱德综合征患者甲状腺功能正常，但高氯酸盐试验呈阳性，表明碘有机化受损。感音神经性耳聋通常与内耳畸形有关，称为蒙迪尼耳蜗。据认为，彭德莱德综合征的发病率高达每10万人中有7.5至10例，据估计约占遗传性耳聋病例的10%。1996年首次确定彭德莱德综合征与7号染色体q22 - 31.1区域连锁，1997年克隆出彭德莱德综合征基因（PDS基因）。PDS基因编码pendrin，一种高度疏水的含780个氨基酸的蛋白质，有11个跨膜结构域。其功能尚不清楚。序列比较显示与几种硫酸盐转运体有很高的同源性，表明它可能是一种硫酸盐或阴离子转运体。现在已知PDS基因的多种突变与彭德莱德综合征有关。对PDS基因进行分子分析有助于对家族性和散发性彭德莱德综合征病例做出明确诊断，并将有助于确定这种疾病的真实患病率。
