【摘要】：目的分析一個(gè)X連鎖隱性遺傳性耳聾家系的臨床特征及遺傳學(xué)規(guī)律。方法通過(guò)問(wèn)卷調(diào)查,收集家系成員臨床資料,并進(jìn)行聽(tīng)力學(xué)檢測(cè)、專(zhuān)科檢查及全面體查,對(duì)臨床聽(tīng)力學(xué)特征進(jìn)行分析并繪制遺傳圖譜,并對(duì)先證者進(jìn)行GJB2、GJB3以及線(xiàn)粒體全序列進(jìn)行篩查。結(jié)果家系成員共28人,其中男性患者5人,分布于第二、三及四代,耳聾發(fā)生于0~5歲,迅速進(jìn)展為雙側(cè)對(duì)稱(chēng)性中高頻下降的重度至極重度感音神經(jīng)性聽(tīng)力下降,典型聽(tīng)力圖表現(xiàn)為特征性的‘U’型或陡降型。4例為語(yǔ)后聾,1例語(yǔ)前聾患兒未能通過(guò)新生兒聽(tīng)力篩查。根據(jù)系譜圖分析,該家系均為男性患病,雙親正常,符合X連鎖隱性遺傳模式,同時(shí)先證者耳聾基因篩查亦為陰性。結(jié)論本家系的臨床聽(tīng)力學(xué)及遺傳學(xué)特征分析符合X連鎖隱性遺傳,進(jìn)一步將通過(guò)外顯子測(cè)序探索該家系耳聾致病基因。
[Abstract]:Objective to analyze the clinical and genetic characteristics of X-linked recessive hereditary deafness. Methods the clinical data of family members were collected by questionnaire, and audiological examination, specialized examination and overall physical examination were carried out, and the clinical audiological characteristics were analyzed and genetic map was drawn. The proband was screened for GJB2,GJB3 and mitochondrial sequence. Results A total of 28 family members, including 5 male patients, were found in the second, third and fourth generations. The deafness occurred at 0 to 5 years old. The deafness developed rapidly into severe to very severe sensorineural hearing loss with bilateral symmetry and high frequency reduction. The typical audiograms showed that 4 cases of postlingual deafness and 1 case of prelingual deafness failed to pass the neonatal hearing screening. According to the pedigree analysis, all the families were male with normal parents, which were in accordance with X linkage recessive genetic model, and the deafness gene screening of the proband was negative. Conclusion the clinical audiological and genetic characteristics of this family are in accordance with X linkage recessive inheritance, and the gene causing deafness in this family is further explored by exon sequencing.
【作者單位】： 中南大學(xué)湘雅醫(yī)院耳鼻咽喉頭頸外科;耳鼻咽喉重大疾病研究湖南省重點(diǎn)實(shí)驗(yàn)室;中南大學(xué)醫(yī)學(xué)遺傳學(xué)國(guó)家重點(diǎn)實(shí)驗(yàn)室;新疆醫(yī)科大學(xué)第一附屬醫(yī)院耳鼻咽喉科;
【基金】：國(guó)家自然科學(xué)基金項(xiàng)目(Grant No.81300833,81170923,81470705) 國(guó)家重大科學(xué)研究計(jì)劃項(xiàng)目(Grant No.2014CB541702,2014CB943003) 湖南省自然科學(xué)基金(Grant No.13JJ4023)共同資助~~
【分類(lèi)號(hào)】：R764.43

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