A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family
A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family
复制标题
TRIOBP基因新突变导致中国家庭先天性耳聋
DOI：
10.1186/s12881-020-01055-5
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发表时间：
2020-06
影响因子：
--
通讯作者：
Han Fengchan
中科院分区：
文献类型：
--
作者：
Zhou Bingxin;Yu Lili;Wang Yan;Shang Wenjing;Xie Yi;Wang Xiong;Han Fengchan
常染色体隐性非综合征性耳聋DFNB28的特征是语前感音神经性听力损失。该疾病与TRIOBP（Trio - 和F - 肌动蛋白结合蛋白）基因的突变有关，该基因有三种转录本，称为TRIOBP - 5
Background
The autosomal recessive non-syndromic deafness DFNB28 is characterized by prelingual sensorineural hearing loss. The disease is related with mutations in TRIOBP (Trio- and F-actin-Binding Protein) gene, which has three transcripts referred to as TRIOBP-5, TRIOBP − 4 and TRIOBP-1. Among them, TRIOBP-5/− 4 are expressed in the inner ears and crucial for maintaining the structure and function of the stereocilia.
Methods
The proband is a 26-year-old Chinese female. She and her younger brother have being suffered from severe deafness since birth, whereas her parents, who are cousins, have normal communication ability. Hearing impairment of the two siblings was determined by pure tone audiometry. Whole Exome Sequencing (WES) was performed on the genomic DNA of the proband and Sanger sequencing was conducted on the DNA samples of the four family members.
Results
Tests of pure tone hearing thresholds showed a severe to profound symmetric hearing loss for the proband and her younger brother. Moreover, a novel TRIOBP c.1342C T (p.Arg448*) variant was identified by WES in the DNA sample of the proband and confirmed by Sanger sequencing in DNA of the family members.
Conclusions
The TRIOBP c.1342C T (p.Arg448*) variant is predicted to disrupt TRIOBP-5 and TRIOBP-4, which may lead to the congenital deafness. The results will broaden the spectrum of pathogenic variants in TRIOBP gene. The characteristics of deafness in the family imply that marriage between close relatives should be avoided.
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影响因子：
5.3
作者：
通讯作者：
--
影响因子：
--
作者：
Shang H;Yan D;Tayebi N;Saeidi K;Sahebalzamani A;Feng Y;Blanton S;Liu X
通讯作者：
Liu X
影响因子：
10.7
作者：
通讯作者：
--
影响因子：
4.5
作者：
Azaiez H;Decker AR;Booth KT;Simpson AC;Shearer AE;Huygen PL;Bu F;Hildebrand MS;Ranum PT;Shibata SB;Turner A;Zhang Y;Kimberling WJ;Cornell RA;Smith RJ
通讯作者：
Smith RJ
DOI：
10.1083/jcb.201009100
发表时间：
2011-04-18
期刊：
The Journal of cell biology
影响因子：
--
作者：
Yano T;Yamazaki Y;Adachi M;Okawa K;Fort P;Uji M;Tsukita S;Tsukita S
通讯作者：
Tsukita S