Shaukat Shahzad, Fatima Zareen, Zehra Uruj, Waqar Ahmed Bilal
National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore.
J Ayub Med Coll Abbottabad. 2003 Jul-Sep;15(3):59-64.
Deafness means partial or complete hearing impairment and is one of the most prevalent sensory defects in humans. It can be due to genetic or environmental causes or a combination of both and may be Syndromic (associated with additional clinical features) or nonsyndromic (no other recognizable abnormal associated phenotype). The overall impact of hearing impairment is greatly influenced by the severity of hearing defect and by the age of onset. If defect is severe and presents in early childhood, it has dramatic effect on speech acquisition and thereby cognitive and psychosocial development. The mutations shown in the paper results in the conformational changes of protein and influence the phenotype of the affected individuals. For recessive cases of deafness it is possible to reduce the incidence of deafness by carrier screening in the families with multiple affected individuals and genetic counselling. Pendred Syndrome can be characterized by the triad composed of familial goitre, abnormal perchlorate discharge and congenital deafness.
耳聋意味着部分或完全听力受损，是人类最常见的感官缺陷之一。它可能由遗传或环境因素导致，或两者共同作用引起，可能是综合征性的（与其他临床特征相关）或非综合征性的（无其他可识别的异常相关表型）。听力障碍的总体影响在很大程度上受听力缺陷的严重程度和发病年龄的影响。如果缺陷严重且在幼儿期出现，会对语言习得产生巨大影响，进而影响认知和心理社会发展。论文中显示的突变会导致蛋白质的构象变化，并影响受影响个体的表型。对于隐性耳聋病例，通过对有多个受影响个体的家庭进行携带者筛查和遗传咨询，可以降低耳聋的发病率。彭德莱德综合征的特征可能是由家族性甲状腺肿、异常高氯酸盐排出和先天性耳聋组成的三联征。
