Auditory phenotype of DFNA17.
Auditory phenotype of DFNA17.
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DFNA17 的听觉表型。
DOI：
10.1159/000066818
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发表时间：
2002
影响因子：
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通讯作者：
Mhatre,AnandN
中科院分区：
文献类型：
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作者：
Lalwani,AnilK;Goldstein,JayneA;Mhatre,AnandN
1993年，一个五代遗传性听力障碍与耳蜗囊变性相关的家族被确定为[1]。这个家庭最初是通过House耳研究所的颞骨收集发现的。Fred Linthicum医生和Jean Moore医生在检查先证者的医疗记录时怀疑是遗传性耳聋，因为还有其他家庭成员有听力障碍。通过先证者的配偶收集家庭信息，构建家谱，并招募22名家庭成员进行后续的遗传研究（图1）。随后，我们将这个家族定位到22q12染色体。2-q13。3，跨越17- 23cm区域，定义了一个新的非综合征遗传性听力障碍基因座dfna17[2]。
In 1993, a five-generation family with hereditary hearing impairment associated with cochleosaccular degeneration was identified [1]. The family was initially discovered through the temporal bone collection at the House Ear Institute. Drs Fred Linthicum and Jean Moore suspected hereditary deafness when upon inspection of the proband's medical record, there were additional family members with hearing impairment. Family information was gathered through the spouse of the proband, a pedigree was constructed, and 22 members of the family were enrolled for the subsequent genetic study (fig. 1). Subsequently, we mapped this family to chromosome 22q12. 2-q13. 3, spanning a 17-to 23-cM region, defining a new locus for nonsyndromic hereditary hearing impairment DFNA17 [2].