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A Novel GJB2 compound heterozygous mutation c.257C > G (p.T86R)/c.176del16 (p.G59A fs*18) causes sensorineural hearing loss in a Chinese family

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单位： [1]The Institute of Audiology and Balance science of Xuzhou Medical University, Xuzhou, China [2]Department of Otolaryngology-Head and Neck Surgery, Beijing Friendship Hospital, Capital Medical University, Beijing, China [3]Department of Otolaryngology-Head and neck surgery, The first Hospital of JiLin University, Changchun, China [4]Clinical Hearing Center of Affliated Hospital of Xuzhou Medical University, Xuzhou, China [5]Jiangsu Key Laboratory of New Drug Research and Clinical Pharmacy, Xuzhou Medical University, Xuzhou, China

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关键词： compound heterozygous mutation GJB2 molecular dynamics simulation sequence analysis SNHL

摘要：

ObjectiveTo investigate whether a novel compound heterozygous mutations c.257C>G (p.T86R)/c.176del16 (p.G59A fs*18) in GJB2 result in hearing loss. MethodsAllele-specific PCR-based universal array (ASPUA) screening and sequence analysis were applied to identify these mutations. 3D model was built to perform molecular dynamics (MD) simulation to verify the susceptibility of the mutations. Furthermore, WT- and Mut-GJB2 DNA fragments, containing the mutation of c.257C>G and c.176del16 were respectively cloned and transfected into HEK293 and spiral ganglion neuron cell (SGNs) by lenti-virus delivery system to indicate the subcellular localization of the WT- and Mut-CX26 protein. ResultsA novel compound heterozygous mutation c.257C>G (p.T86R)/c.176del16 (p.G59A fs*18) in GJB2 was identified in a Chinese family, in which 4 siblings with profound hearing loss, but the fifth child is normal. By ASPUA screening and sequencing, a compound heterozygote mutations in GJB2 c.257C>G (p.T86R)/c.176del16 (p.G59A fs*18) were identified in these four deaf children, each of the mutated GJB2 gene were inherited from their parents. There is no mutation of GJB2 gene identified in the normal child. Besides, the compound heterozygous mutation GJB2 c.257C>G (p.T86R)/c.176del16 (p.G59A fs*18) could lead to the alterations of the subcellular localization of each corresponding mutated CX26 protein and could cause the hearing loss, which has been predicted by MD simulation and verified in both 293T and SGNs cell line. ConclusionThe c.257C>G (p.T86R)/c.176del16 (p.G59A fs*18) compound mutations in GJB2 detected in this study are novel, and which may be associated with hearing loss in this Chinese family.

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出版当年[2017]版：

大类 | 4 区医学

小类 | 4 区医学实验技术

最新[2025]版：

大类 | 4 区医学

小类 | 3 区医学实验技术

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出版当年[2016]版：

Q3 MEDICAL LABORATORY TECHNOLOGY

最新[2023]版：

Q2 MEDICAL LABORATORY TECHNOLOGY

影响因子： 最新[2023版] 2.6 最新五年平均[2021-2025] 2.4 出版当年[2016版] 1.521 出版当年五年平均[2012-2016] 1.438 出版前一年[2015版] 1.549 出版后一年[2017版] 1.303

第一作者：

第一作者单位： [1]The Institute of Audiology and Balance science of Xuzhou Medical University, Xuzhou, China [2]Department of Otolaryngology-Head and Neck Surgery, Beijing Friendship Hospital, Capital Medical University, Beijing, China

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通讯作者：

通讯机构： [2]Department of Otolaryngology-Head and Neck Surgery, Beijing Friendship Hospital, Capital Medical University, Beijing, China [5]Jiangsu Key Laboratory of New Drug Research and Clinical Pharmacy, Xuzhou Medical University, Xuzhou, China [*1]Department of Otolaryngology-Head and Neck Surgery, Beijing Friendship Hospital, Capital Medical University, Beijing, China. [*2]Jiangsu Key Laboratory of New Drug Research and Clinical Pharmacy, Xuzhou Medical University, Xuzhou, China.

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A Novel GJB2 compound heterozygous mutation c.257C > G (p.T86R)/c.176del16 (p.G59A fs*18) causes sensorineural hearing loss in a Chinese family

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