產前診斷遺傳性聽障

Prenatal Diagnosis of Hereditary Hearing Impairment

李建林(Chien-Lin Lee) ； 施丞陽(Cheng-Yang Shih) ； 蘇怡寧(Yi-Ning Su) ； 吳振吉(Chen-Chi Wu) ； 許權振(Chuan-Jen Hsu)

《台灣耳鼻喉頭頸外科雜誌》 41卷4期 (2006/08) Pp. 147-151

https://doi.org/10.6286/2006.41.4.147

摘要

兒童聽障是耳鼻喉科常見的疾病。隨著分子遺傳學的突飛猛進，近年來吾人對於兒童聽障之成因及致病機轉的瞭解，亦有顯著的進展。然而，此一部分的知識卻鮮被應用於臨床工作上，致使耳鼻喉科醫師於面對聽障兒童及其家屬時，一直無法有效地進行預防性的處置。臺大醫院耳鼻喉部過去3年來，致力於國人聽障的基因檢測以及基因檢體庫的建立，於去年完成1例遺傳性聽障之產前診斷：聽障家族之初始受試者(proband)－兩歲男孩，經診斷帶有GJB2基因V37I同型接合子突變(homozygous mutation)，而其父母則各帶有一V37I之對偶基因(allele)，當初始受試者之母親再度懷孕時，吾人藉由羊水穿刺以及其後的細胞培養及突變檢測，診斷腹中胎兒未帶突變，而於胎兒出生後追蹤近一年，聽力檢查亦證實為正常。鑑於遺傳性聽障之產前診斷於疾病預防之重要性，且國內仍無相關文獻，故特此提出病例報告。

關鍵字

遺傳性聽障 ； 產前診斷 ； 羊膜穿刺 ； 聽障基因GJB2

並列摘要

Pediatric hearing impairment is a common disease. With modern advances in molecular genetics, the nature of pediatric hearing impairment has started to be unraveled. However, despite these advances, the clinical application of relevant knowledge remains very limited domestically. In this article, we reported our experience carrying out prenatal diagnosis in a family with a V37I mutation of the GJB2 gene, which is common deafness mutation among Taiwanese. We conducted amniocentesis of a mother whose first child had been confirmed previously to be homozygous V37I, and then screened the fetus for the GJB2 gene using the amniotic cells. The fetus showed no mutation of the GJB2 gene, and an audiological examination performed after birth revealed normal hearing. Through the use of amniocentesis during the 16(superscript th) to 20(superscript th) weeks of pregnancy followed by cell culture and mutation screening, our approach showed the feasibility of establishing a rapid and accurate prenatal diagnosis system for hereditary hearing impairment. We report this case to emphasize the importance of prenatal diagnosis of hereditary hearing loss in the Taiwan context.

並列關鍵字

hereditary hearing impairment ； prenatal diagnosis ； amniocentesis ； GJB2 gene