Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population.
Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population.
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DOI：
10.1177/000348941011901207
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发表时间：
2010-12
期刊：
影响因子：
--
通讯作者：
Najmabadi H
中科院分区：
文献类型：
--
作者：
Hildebrand MS;Kahrizi K;Bromhead CJ;Shearer AE;Webster JA;Khodaei H;Abtahi R;Bazazzadegan N;Babanejad M;Nikzat N;Kimberling WJ;Stephan D;Huygen PL;Bahlo M;Smith RJ;Najmabadi H
探讨伊朗两个近亲家系中常染色体隐性遗传性非综合征性耳聋（ARNSHL）分离的原因。对每个家庭的受影响成员进行耳科和听力检查。全基因组参数多点连锁作图采用隐性模型进行，与Affyestival 50 K基因芯片或短串联重复多态性（STRP）。直接测序法用于确定每个家系中的致病突变。在两个伊朗家庭，L-1651和L-8600606，分离ARNSHL映射到DFNB 7/11基因座，纯合性的剪接位点突变（c.776+1G>A）和一个新的缺失（c.1589_1590delCT; p.S530*）被确定在TMC 1基因，分别。与先前报道的DFNB 7/11家族的表型一致，这两个伊朗家族分离出先天性极重度听力障碍。然而，在家族L-1651中，一名受影响的家族成员（IV：3）的听力障碍比预期的要轻，这表明潜在的遗传修饰效应。这些结果表明，DFNB 7/11是伊朗遗传性听力损失的一种常见形式，因为该人群是全球报告的29种TMC 1突变中的6种突变的来源。
To investigate the cause of autosomal recessive non-syndromic hearing loss (ARNSHL) segregating in two consanguineous Iranian families. Otologic and audiometric examinations were performed on affected members of each family. Genome-wide parametric multipoint linkage mapping using a recessive model was performed with Affymetrix 50K GeneChips or short tandem repeat polymorphisms (STRPs). Direct sequencing was used to confirm the causative mutation in each family. In two Iranian families, L-1651 and L-8600606, segregating ARNSHL that mapped to the DFNB7/11 locus, homozygosity for a reported splice site mutation (c.776+1G>A) and a novel deletion (c.1589_1590delCT; p.S530*) were identified in the TMC1 gene, respectively. Consistent with the previously reported phenotype in DFNB7/11 families, the two Iranian families segregate congenital, profound hearing impairment. However, in family L-1651 one affected family member (IV:3) has milder hearing impairment than expected, suggesting a potential genetic modifier effect. These results indicate that DFNB7/11 is a common form of genetic hearing loss in Iran since this population is the source of six of the 29 TMC1 mutations reported worldwide.
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TMC1的突变分析鉴定了四个新突变，并提出了位点DFNA36和DFNB7/11的额外耳聋基因。
影响因子：
3.5
作者：
Hilgert N;Alasti F;Dieltjens N;Pawlik B;Wollnik B;Uyguner O;Delmaghani S;Weil D;Petit C;Danis E;Yang T;Pandelia E;Petersen MB;Goossens D;Favero JD;Sanati MH;Smith RJ;Van Camp G
通讯作者：
Van Camp G
影响因子：
3.9
作者：
Santos, Regie Lyn P;Wajid, Muhammad;Leal, Suzanne M
通讯作者：
Leal, Suzanne M
影响因子：
30.8
作者：
Kurima, K;Peters, LM;Griffith, AJ
通讯作者：
Griffith, AJ
影响因子：
9.8
作者：
Brown, MR;Tomek, MS;Smith, RJH
通讯作者：
Smith, RJH
影响因子：
3.9
作者：
Meyer, Christian G;Gasmelseed, Nagla M;Horstmann, Rolf D
通讯作者：
Horstmann, Rolf D