Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations.
Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations.
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DOI：
10.1186/s12881-015-0149-2
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发表时间：
2015-02-25
影响因子：
--
通讯作者：
Tekin M
中科院分区：
文献类型：
--
作者：
Bademci G;Lasisi A;Yariz KO;Montenegro P;Menendez I;Vinueza R;Paredes R;Moreta G;Subasioglu A;Blanton S;Fitoz S;Incesulu A;Sennaroglu L;Tekin M
POU3F4基因突变导致3型x连锁耳聋（DFN3），其特征是内耳异常。根据先证者或x连锁家族史中检测到的内耳异常，包括三个土耳其家庭、一个厄瓜多尔家庭和一个尼日利亚家庭。进行外显子组测序和/或Sanger测序，以确定这些家庭的致病DNA变异。在POU3F4中发现了4个新的突变，c.707A b> C （p.(Glu236Ala)）、c.772delG （p.(Glu258ArgfsX30)）、c.902C>T （p.(Pro301Leu)）、c.987T>C （p.(Ile308Thr)）和一个先前报道的突变c.346delG （p.(Ala116ProfsX26)）。所有发现的突变都预测会影响该蛋白的POU特异性或POU同源结构域，并在所有家族中与耳聋共分离。扩大不同人群中POU3F4突变及其相关表型的谱，可以更好地了解其临床重要性，并有助于对受影响个体的临床评估和咨询。本文的在线版本（doi:10.1186/s12881-015-0149-2）包含补充材料，可供授权用户使用。
Mutations in the POU3F4 gene cause X-linked deafness type 3 (DFN3), which is characterized by inner ear anomalies. Three Turkish, one Ecuadorian, and one Nigerian families were included based on either inner ear anomalies detected in probands or X-linked family histories. Exome sequencing and/or Sanger sequencing were performed in order to identify the causative DNA variants in these families. Four novel, c.707A>C (p.(Glu236Ala)), c.772delG (p.(Glu258ArgfsX30)), c.902C>T (p.(Pro301Leu)), c.987T>C (p.(Ile308Thr)), and one previously reported mutation c.346delG (p.(Ala116ProfsX26)) in POU3F4, were identified. All mutations identified are predicted to affect the POU-specific or POU homeo domains of the protein and co-segregated with deafness in all families. Expanding the spectrum of POU3F4 mutations in different populations along with their associated phenotypes provides better understanding of their clinical importance and will be helpful in clinical evaluation and counseling of the affected individuals. The online version of this article (doi:10.1186/s12881-015-0149-2) contains supplementary material, which is available to authorized users.
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影响因子：
56.9
作者：
DEKOK, YJM;VANDERMAAREL, SM;CREMERS, FPM
通讯作者：
CREMERS, FPM
PRPS1 基因的功能丧失突变会导致一种非综合征性 X 连锁感音神经性耳聋 (DFN2)。
影响因子：
9.8
作者：
Liu, Xuezhong;Han, Dongyi;Yuan, Huijun
通讯作者：
Yuan, Huijun
DOI：
10.1001/archotol.126.9.1065
发表时间：
2000-09-01
影响因子：
--
作者：
Arellano, B;Camacho, RR;Moreno, F
通讯作者：
Moreno, F
影响因子：
2.6
作者：
Hagiwara, H;Tamagawa, Y;Kodera, K
通讯作者：
Kodera, K
影响因子：
4.6
作者：
Lee, Hee Keun;Song, Mee Hyun;Kim, Un-Kyung
通讯作者：
Kim, Un-Kyung