母女患角膜炎-鱼鳞病-耳聋（KID）综合征伴传导性和感音神经性混合性听力损失的Connexin 26基因突变
Connexin 26 mutation in keratitis-ichthyosis-deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss.
作者信息
Kelly Brent, Lozano Annabelle, Altenberg Guillermo, Makishima Tomoko
机构信息
University of Texas Medical Branch, Galveston, and Baylor College of Medicine, Houston, Texas, USA.
出版信息
Int J Dermatol. 2008 May;47(5):443-7. doi: 10.1111/j.1365-4632.2008.03603.x.
BACKGROUND
Keratitis-ichthyosis-deafness (KID) syndrome most commonly results from a mutation in the gap-junctional protein connexin 26 (Cx26) gene, GJB2. Most cases are sporadic and are associated with sensorineural hearing loss.
METHODS
We encountered a mother and daughter with KID syndrome, and pursued genetic analysis and an extensive hearing loss evaluation.
RESULTS
The analysis of genomic DNA of both affected patients revealed the mutation 148G --> A in GJB2 (D50N). No mutation was found in an unaffected son. Auditory phenotype analysis showed a combined conductive and sensorineural hearing loss in both affected patients.
CONCLUSIONS
This is the second vertical transmission of the D50N mutation. These are the first two cases with combined sensorineural and conductive hearing loss without any significant history of middle ear disease. This points to the possibility that the Cx26 D50N mutation can cause conductive hearing loss.
背景
角膜炎-鱼鳞病-耳聋（KID）综合征最常见的病因是缝隙连接蛋白连接蛋白26（Cx26）基因GJB2发生突变。大多数病例为散发性，且与感音神经性听力损失有关。
方法
我们遇到了一对患有KID综合征的母女，并进行了基因分析和全面的听力损失评估。
结果
对两名受影响患者的基因组DNA分析显示，GJB2基因存在148G→A突变（D50N）。在未受影响的儿子中未发现突变。听觉表型分析显示，两名受影响患者均存在传导性和感音神经性混合性听力损失。
结论
这是D50N突变的第二次垂直传播。这是头两例患有感音神经性和传导性混合性听力损失且无任何明显中耳疾病史的病例。这表明Cx26 D50N突变可能导致传导性听力损失。
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