Medlej-Hashim Myrna, Mustapha Mirna, Chouery Eliane, Weil Dominique, Parronaud Joel, Salem Nabiha, Delague Valérie, Loiselet Jacques, Lathrop Mark, Petit Christine, Mégarbané André
Unité de Génétique Médicale, Faculté de Médecine, Université Saint Joseph, Beirut, Lebanon.
Eur J Hum Genet. 2002 Jun;10(6):391-4. doi: 10.1038/sj.ejhg.5200813.
Non-syndromic recessive deafness (NSRD) is the most commonly encountered form of hereditary hearing loss. The majority of NSRD cases in the Mediterranean area are linked to the DFNB1 locus (the connexin 26 GJB2 gene). Unrelated NSRD patients issued from 68 Jordanian families, were tested for mutations of the GJB2 gene by sequencing. Sixteen per cent of the families tested were linked to the DFNB1 locus. The 35delG was the only GJB2 mutation detected in these families. One of these families, presenting with four affected members and not linked to the gene, was subjected to a genome-wide search and was found to be mapped to 9q34.3 with a multipoint lodscore of 3.9. One candidate gene in the interval, coding for the chloride intracellular channel 3, CLIC3, was tested and excluded. The identification of a new NSRD locus, DFNB33, in one Jordanian family, shows the wide genetic heterogeneity that characterizes hearing impairment and the genetic diversity in Middle-Eastern populations.
非综合征性隐性耳聋（NSRD）是最常见的遗传性听力损失形式。地中海地区的大多数NSRD病例与DFNB1位点（连接蛋白26 GJB2基因）相关。对来自68个约旦家庭的无关NSRD患者进行了GJB2基因突变的测序检测。检测的家庭中有16%与DFNB1位点相关。35delG是这些家庭中检测到的唯一GJB2突变。其中一个家庭有四名受影响成员且与该基因不相关，对其进行了全基因组搜索，发现该家庭定位到9q34.3，多点连锁分数为3.9。对该区间内一个编码氯离子细胞内通道3（CLIC3）的候选基因进行了检测并排除。在一个约旦家庭中发现了一个新的NSRD位点DFNB33，这表明听力障碍具有广泛的遗传异质性以及中东人群的遗传多样性。
