Congenital Middle Ear Malformation with Common Deafness Gene Mutation Analysis: A Review of 813 Profound Sensorineural Hearing Loss Child Patients

Yunpeng Dong; Xiangbo He; Weijing Wu; Shu Yang; Anquan Peng; Zian Xiao; Yuyuan Liu; Shuichao Gao; Donghui Tan; Xue Zhong Liu; Dinghua Xie

doi:10.1002/ar.24330

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Congenital Middle Ear Malformation with Common Deafness Gene Mutation Analysis: A Review of 813 Profound Sensorineural Hearing Loss Child Patients

Journal article

Peer reviewed

Congenital Middle Ear Malformation with Common Deafness Gene Mutation Analysis: A Review of 813 Profound Sensorineural Hearing Loss Child Patients

Yunpeng Dong, Xiangbo He, Weijing Wu, Shu Yang, Anquan Peng, Zian Xiao, Yuyuan Liu, Shuichao Gao, Donghui Tan, Xue Zhong Liu, …

Anatomical record (Hoboken, N.J. : 2007), Vol.303(3), pp.594-599

2020-03

DOI: https://doi.org/10.1002/ar.24330

PMID: 31876389

Abstract

Child

Child, Preschool

Congenital Abnormalities - diagnostic imaging

Congenital Abnormalities - genetics

Connexins - genetics

DNA Mutational Analysis

DNA, Mitochondrial - genetics

Ear, Middle - abnormalities

Ear, Middle - diagnostic imaging

Female

Gene Frequency

Genotype

Hearing Loss, Sensorineural - diagnostic imaging

Hearing Loss, Sensorineural - genetics

Humans

Male

Mutation

Phenotype

Retrospective Studies

Sulfate Transporters - genetics

Temporal Bone - diagnostic imaging

Deafness gene variants play a key role in inner ear malformations. However, the relationship between congenital middle ear malformations and common deafness genes (GJB2, SLC26A4, and mtDNA) in profound sensorineural hearing loss (SNHL) child patients remains poorly investigated. Here we showed that there was no statistical significance in the total mutation frequency of the three common deafness genes in the middle ear malformation group (21.2%, 41/193) in comparison with the normal middle ear and inner ear group (21.0%, 116/553) (χ = 0.0061, p = 0.940). Moreover, the mutation ratio of GJB2 and SLC26A4 in the middle ear malformation group (18.7%, 36/193; 2.6%, 5/193) was not significantly different from that in the normal middle ear and inner ear group (17.7%, 98/553; 2.4%, 13/553) (χ = 0.084, p = 0.772; χ = 0.0000, p = 1.000). The mutation ratio of GJB2 235delC and GJB2 79G>A in the middle ear malformation group (8.8%, 17/193; 8.8%, 17/193) was almost the same to that in the normal middle ear and inner ear group (8.6%, 48/553; 6.7%, 37/553) (χ = 0.0030, p = 0.957; χ = 0.9556, p = 0.328). The high jugular bulb subgroup analysis also showed the same results. Our findings suggested that GJB2, SLC26A4, and mtDNA mutations might not be related to the middle ear malformations in profound SNHL child patients. Anat Rec, 303:594-599, 2020. © 2019 American Association for Anatomy.

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.150 Hearing Loss; 1.150.421 Cochlea
Web Of Science research areas: Anatomy & Morphology
ESI research areas: Biology & Biochemistry

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Title: Congenital Middle Ear Malformation with Common Deafness Gene Mutation Analysis: A Review of 813 Profound Sensorineural Hearing Loss Child Patients
Creators: Yunpeng Dong - Department of Otolaryngology-Head & Neck surgery, The Affiliated Hospital of Xiangnan University, Chenzhou, Hunan, China
Xiangbo He - Department of Otolaryngology-Head & Neck Surgery, Institute of Otology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China
Weijing Wu - Department of Otolaryngology-Head & Neck Surgery, Institute of Otology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China
Shu Yang - Department of Otolaryngology-Head & Neck Surgery, Institute of Otology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China
Anquan Peng - Department of Otolaryngology-Head & Neck Surgery, Institute of Otology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China
Zian Xiao - Department of Otolaryngology-Head & Neck Surgery, Institute of Otology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China
Yuyuan Liu - Department of Otolaryngology-Head & Neck Surgery, Institute of Otology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China
Shuichao Gao - Department of Otolaryngology-Head & Neck Surgery, Institute of Otology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China
Donghui Tan - Department of Otolaryngology-Head & Neck Surgery, Leonard M. Miller School of Medicine, University of Miami, Miami, Florida
Xue Zhong Liu - Department of Otolaryngology-Head & Neck surgery, The Affiliated Hospital of Xiangnan University, Chenzhou, Hunan, China
Dinghua Xie - Department of Otolaryngology-Head & Neck Surgery, Institute of Otology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China
Publication Details: Anatomical record (Hoboken, N.J. : 2007), Vol.303(3), pp.594-599
Academic Unit: Miller School of Medicine; UMMG Department of Otolaryngology
Language: English
Resource Type: Journal article
PMID: 31876389
Record Identifier: 991031615457102976