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Cochlear Implants Int 2018 Nov 28:1-4. Epub 2018 Nov 28.

c Department of Otorhinolaryngology, Head & Neck Surgery and Audiology , Copenhagen University Hospital Rigshospitalet/Gentofte Hospital , København , Denmark.

A 10-year-old boy with fluctuating sensorineural hearing loss (SNHL) and biallelic mutations in the SLC26A4 gene and with inner ear anomalies received a cochlear implantation. SLC26A4 mutations are associated with variable degrees of SNHL and enlarged vestibular aqueducts (EVA), identified either as non-syndromic EVA or classic Pendred syndrome; the latter also associated with thyroid dysfunction. The inner ear malformations in this group of patients have been considered a relative contraindication against cochlear implantation because of the potential per- and postoperative complications such as peroperative cerebrospinal fluid leak or postoperative vestibular symptoms. Read More

Hum Genome Var 2018 22;5:23. Epub 2018 Aug 22.

2Department of Otorhinolaryngology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano, 390-8621 Japan.

is a member of the vertebrate gene family of transcriptional activators and plays several roles in both embryonic and inner ear development. The majority of gene mutations are associated with autosomal dominant non-syndromic hearing loss (DFNA10). In addition, some mutations in this gene cause autosomal dominant syndromic hearing loss with dilated cardiomyopathy. Read More

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2018 Apr;32(8):639-642

Large vestibular aqueduct syndrome is one of the common non-syndromic hearing impairment. It is one of the most common inner ear abnormalities that cause hearing loss in children.The main performance is gradual or fluctuant hearing loss, from basic normal to extremely severe. Read More

BMC Med Genet 2018 May 8;19(1):73. Epub 2018 May 8.

Centro de Pesquisas sobre o Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.

Background: Mutations in the SLC26A4 gene are associated with Pendred syndrome and autosomal recessive non-syndromic deafness (DFNB4). Both disorders have similar audiologic characteristics: bilateral hearing loss, often severe or profound, which may be associated with abnormalities of the inner ear, such as dilatation of the vestibular aqueduct or Mondini dysplasia. But, in Pendred syndrome (OMIM #274600), with autosomal recessive inheritance, besides congenital sensorineural deafness, goiter or thyroid dysfunctions are frequently present. Read More

Am J Med Genet A 2018 Apr;176(4):945-950

Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.

Connexin 26 (Cx26), encoded by the GJB2 gene, is a key protein involved in the formation of gap junctions in epithelial organs including the inner ear and palmoplantar epidermis. Pathogenic variants in GJB2 are responsible for approximately 50% of inherited sensorineural deafness. The majority of these variants are associated with autosomal recessive inheritance; however, rare reports of dominantly co-segregating variants have been published. Read More

Int J Pediatr Otorhinolaryngol 2018 Apr 31;107:97-100. Epub 2018 Jan 31.

Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China. Electronic address:

Objectives: To identity the genetic causes of hearing loss in a Han Chinese family with enlarged vestibular aqueduct syndrome.

Methods: Multiplex PCR technology combined with Ion Torrent™ next-generation sequencing technology was used to search for pathogenic mutations. A group of 1500 ethnically-matched normal hearing subjects screened for mutations in deafness-related genes using the same method in previously studied were included as a control. Read More

J Med Genet 2018 May 16;55(5):298-306. Epub 2018 Feb 16.

Department of Otolaryngology, Head and Neck Surgery, PLA General Hospital, Beijing, China.

Hereditary sensorineural hearing loss is a genetically heterogeneous disorder. This study was designed to explore the genetic etiology of deafness in a large Chinese family with autosomal dominant, nonsyndromic, progressive sensorineural hearing loss (ADNSHL). Whole exome sequencing and linkage analysis were performed to identify pathogenic mutation. Read More

Int J Mol Sci 2018 Jan 10;19(1). Epub 2018 Jan 10.

Institute of Pharmacology and Toxicology, Paracelsus Medical University, Strubergasse 21, A-5020 Salzburg, Austria.

The prevalence and spectrum of sequence alterations in the gene, which codes for the anion exchanger pendrin, are population-specific and account for at least 50% of cases of non-syndromic hearing loss associated with an enlarged vestibular aqueduct. A cohort of nineteen patients from Austria with hearing loss and a radiological alteration of the vestibular aqueduct underwent Sanger sequencing of and , coding for connexin 26. The pathogenicity of sequence alterations detected was assessed by determining ion transport and molecular features of the corresponding SLC26A4 protein variants. Read More

Orphanet J Rare Dis 2017 09 25;12(1):157. Epub 2017 Sep 25.

Department of Otolaryngology, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo, 152-8902, Japan.

Background: To date, 102 genes have been reported as responsible for non-syndromic hearing loss, some of which are associated with specific audiogram features. Four genes have been reported as causative for mid-frequency sensorineural hearing loss (MFSNHL), among which TECTA is the most frequently reported; however, the prevalence of TECTA mutations is unknown. To elucidate the prevalence of TECTA mutation in MFSNHL and clarify genotype-phenotype correlations, we analyzed the genetic and clinical features of patients with MFSNHL. Read More

Hum Mol Genet 2017 10;26(19):3722-3735

The Jackson Laboratory, Bar Harbor, ME 04609, USA.

Mutations of the human ATP6V1B1 gene cause distal renal tubular acidosis (dRTA; OMIM #267300) often associated with sensorineural hearing impairment; however, mice with a knockout mutation of Atp6v1b1 were reported to exhibit a compensated acidosis and normal hearing. We discovered a new spontaneous mutation (vortex, symbol vtx) of Atp6v1b1 in an MRL/MpJ (MRL) colony of mice. In contrast to the reported phenotype of the knockout mouse, which was developed on a primarily C57BL/6 (B6) strain background, MRL-Atp6v1b1vtx/vtx mutant mice exhibit profound hearing impairment, which is associated with enlarged endolymphatic compartments of the inner ear. Read More

EMBO Rep 2017 11 11;18(11):2015-2029. Epub 2017 Sep 11.

Auditory Systems Physiology Group Department of Otolaryngology University Medical Center Göttingen, Göttingen, Germany

Lipopolysaccharide-responsive beige-like anchor protein (LRBA) belongs to the enigmatic class of BEACH domain-containing proteins, which have been attributed various cellular functions, typically involving intracellular protein and membrane transport processes. Here, we show that LRBA deficiency in mice leads to progressive sensorineural hearing loss. In LRBA knockout mice, inner and outer hair cell stereociliary bundles initially develop normally, but then partially degenerate during the second postnatal week. Read More

Biochem Biophys Res Commun 2017 11 9;493(1):258-262. Epub 2017 Sep 9.

Department of Otolaryngology Head and Neck Surgery, Xiangya Hosipital, Central South University, Changsha, Hunan, People's Republic of China; Province Key Laboratory of Otolaryngology Critical Disease, Xiangya Hosipital, Central South University, Changsha, Hunan, People's Republic of China; State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, People's Republic of China. Electronic address:

Waardenburg syndrome (WS) is an autosomal dominant inherited non-syndromic type of hereditary hearing loss characterized by varying combinations of sensorineural hearing loss and abnormal pigmentation of the hair, skin, and inner ear. WS is classified into four subtypes (WS1-WS4) based on additional symptoms. WS2 is characterized by the absence of additional symptoms. Read More

Proc Natl Acad Sci U S A 2017 09 28;114(37):E7766-E7775. Epub 2017 Aug 28.

Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892;

The NLRP3 inflammasome is an intracellular innate immune sensor that is expressed in immune cells, including monocytes and macrophages. Activation of the NLRP3 inflammasome leads to IL-1β secretion. Gain-of-function mutations of result in abnormal activation of the NLRP3 inflammasome, and cause the autosomal dominant systemic autoinflammatory disease spectrum, termed cryopyrin-associated periodic syndromes (CAPS). Read More

J Med Genet 2017 Oct 5;54(10):665-673. Epub 2017 Aug 5.

Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders (NIDCD), Bethesda, Maryland, USA.

Background: Enlargement of the vestibular aqueduct (EVA) is the most common radiological abnormality in children with sensorineural hearing loss. Mutations in coding regions and splice sites of the gene are often detected in Caucasians with EVA. Approximately one-fourth of patients with EVA have two mutant alleles (M2), one-fourth have one mutant allele (M1) and one-half have no mutant alleles (M0). Read More

Int J Pediatr Otorhinolaryngol 2017 Oct 29;101:254-258. Epub 2017 Jul 29.

Clinic of Audiology & ENT, University of Ferrara, Italy.

Background: Enlarged Vestibular Aqueduct (EVA) is one of the most common congenital malformations associated with sensorineural or mixed hearing loss. The association between hearing loss and EVA is described in syndromic (i.e. Read More

Elife 2017 05 23;6. Epub 2017 May 23.

Oregon Hearing Research Center and the Vollum Institute, Oregon Health and Science University, Portland, United States.

Transmembrane O-methyltransferase (/) is responsible for non-syndromic deafness DFNB63. However, the specific defects that lead to hearing loss have not been described. Using a zebrafish model of DFNB63, we show that the auditory and vestibular phenotypes are due to a lack of mechanotransduction (MET) in Tomt-deficient hair cells. Read More

Bioorg Med Chem 2017 05 14;25(9):2601-2608. Epub 2017 Mar 14.

Laboratory for Chemistry and Life Science, Institute of Innovative Research, Tokyo Institute of Technology, Yokohama 226-8503, Japan. Electronic address:

Pendred syndrome is the most common form of syndromic deafness. It is associated with a mutation in the SLC26A4 gene that encodes pendrin, which is thought to maintain the ion concentration of endolymph in the inner ear most likely by acting as a chloride/bicarbonate transporter. Mutations in the SLC26A4 gene are responsible for sensorineural hearing loss. Read More

BMC Med Genet 2017 03 23;18(1):35. Epub 2017 Mar 23.

Department of Otolaryngology, The People's Hospital of Guangxi Zhuang Autonomous Region, 6 Taoyuan Road, Nanning, 530021, China.

Background: Many hearing-loss diseases are demonstrated to have Mendelian inheritance caused by mutations in single gene. However, many deaf individuals have diseases that remain genetically unexplained. Auditory neuropathy is a sensorineural deafness in which sounds are able to be transferred into the inner ear normally but the transmission of the signals from inner ear to auditory nerve and brain is injured, also known as auditory neuropathy spectrum disorder (ANSD). Read More

Hear Res 2017 05 3;348:87-97. Epub 2017 Mar 3.

Department of Otorhinolaryngology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan; Department of Hearing Implant Sciences, Shinshu University School of Medicine 3-1-1 Asahi, Matsumoto 390-8621, Japan. Electronic address:

Cochlear implantation (CI), which directly stimulates the cochlear nerves, is the most effective and widely used medical intervention for patients with severe to profound sensorineural hearing loss. The etiology of the hearing loss is speculated to have a major influence of CI outcomes, particularly in cases resulting from mutations in genes preferentially expressed in the spiral ganglion region. To elucidate precise gene expression levels in each part of the cochlea, we performed laser-capture micro dissection in combination with next-generation sequencing analysis and determined the expression levels of all known deafness-associated genes in the organ of Corti, spiral ganglion, lateral wall, and spiral limbs. Read More

Cell Rep 2017 01;18(1):68-81

Department of Physiology, Keio University School of Medicine, 35 Shinanomachi Shinjyuku-ku, Tokyo 160-8582, Japan. Electronic address:

Hearing impairments are the most common symptom of congenital defects, and they generally remain intractable to treatment. Pendred syndrome, the most frequent syndromic form of hereditary hearing loss, is associated with mutations in the anion exchanger pendrin. Loss of pendrin function as an anion exchanger is thought to be causative, but rodent models do not exhibit progressive deafness. Read More

Hum Mol Genet 2017 01;26(2):383-394

Institute of Biomedical Science, Fudan University, Shanghai, 200032, People's Republic of China.

Clinical, genetic, and functional investigations were performed to identify the causative mutation in a distinctive Chinese family with postlingual non-syndromic mid-frequency sensorineural hearing loss. Whole-exome sequencing revealed SLC44A4, which encodes the choline transport protein, as the pathogenic gene in this family. In the zebrafish model, downregulation of slc44a4 using morpholinos led to significant abnormalities in the zebrafish inner ear and lateral line neuromasts and contributed, to some extent, to disabilities in hearing and balance. Read More

Int J Pediatr Otorhinolaryngol 2017 Jan 15;92:88-93. Epub 2016 Nov 15.

Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran. Electronic address:

Objective: Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder. Alpha-tectorin, which is encoded by the TECTA gene, is a non-collagenous component of the tectorial membrane in the inner ear defect of which leads to moderate to severe hearing loss (HL).

Methods: 25 unrelated Iranian multiplex ARNSHL families, negative for GJB2 mutations, were recruited in this study. Read More

Neural Plast 2016 14;2016:3018132. Epub 2016 Nov 14.

Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University School of Medicine, Shanghai, China; Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai, China; Department of Otorhinolaryngology-Head and Neck Surgery, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

Nonsyndromic deafness is genetically heterogeneous but phenotypically similar among many cases. Though a variety of targeted next-generation sequencing (NGS) panels has been recently developed to facilitate genetic screening of nonsyndromic deafness, some syndromic deafness genes outside the panels may lead to clinical phenotypes similar to nonsyndromic deafness. In this study, we performed comprehensive genetic screening in a dominant family in which the proband was initially diagnosed with nonsyndromic deafness. Read More

Stem Cell Reports 2016 12 10;7(6):1023-1036. Epub 2016 Nov 10.

Department of Otorhinolaryngology, Juntendo University Faculty of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan. Electronic address:

Mutation of the Gap Junction Beta 2 gene (GJB2) encoding connexin 26 (CX26) is the most frequent cause of hereditary deafness worldwide and accounts for up to 50% of non-syndromic sensorineural hearing loss cases in some populations. Therefore, cochlear CX26-gap junction plaque (GJP)-forming cells such as cochlear supporting cells are thought to be the most important therapeutic target for the treatment of hereditary deafness. The differentiation of pluripotent stem cells into cochlear CX26-GJP-forming cells has not been reported. Read More

Clin Genet 2017 Jun 16;91(6):892-901. Epub 2016 Dec 16.

Bioscientia Center for Human Genetics, Ingelheim, Germany.

In about 20% of non-syndromic hearing loss (NSHL) cases, inheritance is autosomal dominant (ADNSHL). DIAPH1 mutations define the ADNSHL locus DFNA1. We identified two new families with heterozygous truncating DIAPH1 mutations (p. Read More

Biochimie 2017 Jan 19;132:109-120. Epub 2016 Oct 19.

Dept. of Biomedical Sciences, CRIBI Biotechnology Center, University of Padua, Italy; CNR Institute of Neuroscience, Padua, Italy. Electronic address:

Human pendrin (SLC26A4) is an anion transporter mostly expressed in the inner ear, thyroid and kidney. SLC26A4 gene mutations are associated with a broad phenotypic spectrum, including Pendred Syndrome and non-syndromic hearing loss with enlarged vestibular aqueduct (ns-EVA). No experimental structure of pendrin is currently available, making phenotype-genotype correlations difficult as predictions of transmembrane (TM) segments vary in number. Read More

Gene 2016 Oct 5;591(1):177-182. Epub 2016 Jul 5.

Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu 41566, Republic of Korea; School of Life Sciences, BK21 Plus KNU Creative BioResearch Group, Kyungpook National University, Daegu 41566, Republic of Korea. Electronic address:

Background: Myosin is a key protein involved in regulating the shape and motility of cells. The MYH9 and MYH14 genes, which encode non-muscle myosin heavy chain IIA (NMMHC II-A) and IIC (NMMHC II-C), respectively, are expressed in the inner ear. These myosin genes are known to be associated with autosomal dominant non-syndromic hearing loss (ADNSHL); however, genetic studies in patients with ADNSHL in Korea have rarely been reported. Read More

Acta Otolaryngol 2016 Oct 31;136(10):1064-8. Epub 2016 May 31.

a Department of Otorhinolaryngology, Head & Neck Surgery, and Audiology , East Danish Center for Cochlear Implantation, Copenhagen University Hospital Rigshospitalet/Gentofte Hospital , Copenhagen , Denmark ;

Objective: To explore specific clinical issues, surgical results, and complications of 80 cochlear implantations (CI) in 55 patients with Pendred syndrome (PS) or non-syndromic enlarged vestibular aqueduct (NSEVA).

Background: Previous studies have focused either on unselected case series or on populations with mixed cochlear malformations. PS/NSEVA accounts for up to 10% of congenital SNHL, rendering this a large group of cochlear implant candidates. Read More

Int J Pediatr Otorhinolaryngol 2016 Jun 11;85:95-8. Epub 2016 Apr 11.

Department of Pediatrics, University of Torino, Torino, Italy.

Objective: To assess the audiological profile in a cohort of children affected by syndromic craniosynostosis.

Methods: Eleven children with Apert syndrome (n=4), Saethre-Chotzen syndrome (n=3), Muenke syndrome (n=2), Crouzon syndrome (n=1) and Pfeiffer syndrome type 1 (n=1) were submitted to a complete audiologic evaluation including otoscopy, pure-tone audiometry, tympanometry and acoustic reflex testing, ABR, otoacustic emissions, temporal bone High Resolution CT (HRCT) scan. The main outcome measures were prevalence, type and severity of hearing loss, prevalence of chronic otitis media, correlation with the time of first surgical correction. Read More

Acta Otorhinolaryngol Ital 2016 Jun;36(3):233-8

BioISI - Biosystems & Integrative Sciences Institute, Faculty of Science of the University of Lisbon, Portugal, * Present address: UCL Ear Institute, London, United Kingdom;

Pendred syndrome (PS) is the second most common type of autosomal recessive syndromic hearing loss (HL). It is characterised by sensorineural HL and goiter with occasional hypothyroidism. These features are generally accompanied by malformations of the inner ear, as enlarged vestibular aqueduct (EVA). Read More

Hum Mutat 2016 08 6;37(8):812-9. Epub 2016 May 6.

Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.

Although there are nearly 100 different causative genes identified for nonsyndromic hearing loss (NSHL), Sanger sequencing-based DNA diagnostics usually only analyses three, namely, GJB2, SLC26A4, and OTOF. As this is seen as inadequate, there is a need for high-throughput diagnostic methods to detect disease-causing variations, including single-nucleotide variations (SNVs), insertions/deletions (Indels), and copy-number variations (CNVs). In this study, a targeted resequencing panel for hearing loss was developed including 79 genes for NSHL and selected forms of syndromic hearing loss. Read More

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2016 Mar;51(3):224-9

Department of Otorhinolaryngology Head and Neck Surgery, Institute of Otorhinolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100853, China.

Hearing loss is the most frequent sensorineural disorder worldwild, among which about 50% are caused by genetic factors. TMC1 is one of the common genes causing hereditary hearing loss. TMC1 mutations can cause pre-lingual profound/severe autosomal recessive (DFNB7/11) and post-lingual progressive autosomal dominant (DFNA36) non-syndromic hearing loss. Read More

Scientifica (Cairo) 2016 18;2016:7576064. Epub 2016 Feb 18.

Department of Otorhinolaryngology, Faculty of Medicine, Istanbul Medeniyet University, 34722 Istanbul, Turkey.

Congenital hearing impairment affects nearly 1 in every 1000 live births and is the most frequent birth defect in developed societies. Hereditary types of hearing loss account for more than 50% of all congenital sensorineural hearing loss cases and are caused by genetic mutations. HL can be either nonsyndromic, which is restricted to the inner ear, or syndromic, a part of multiple anomalies affecting the body. Read More

Int J Mol Sci 2016 Feb 26;17(3):301. Epub 2016 Feb 26.

Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Jiefang Avenue 1277, Wuhan 430022, China.

Connexin26 (Cx26, encoded by GJB2) mutations are the most common cause of non-syndromic deafness. GJB2 is thought to be involved in noise-induced hearing loss (NIHL). However, the role of Cx26 in NIHL is still obscure. Read More

Hear Res 2016 05 17;335:33-39. Epub 2016 Feb 17.

Department of Otorhinolaryngology, Yonsei University College of Medicine, 50 Yonsei-ro, Seodaemun-gu, Seoul 120-752, Republic of Korea; The Airway Mucus Institute, Yonsei University College of Medicine, 50 Yonsei-ro, Seodaemun-gu, Seoul 120-752, Republic of Korea. Electronic address:

DFNB4 is non-syndromic, autosomal recessive type of hearing loss with an enlarged vestibular aqueduct (EVA) caused by mutations in SLC26A4/pendrin. Although the characteristics of hearing loss are well known in DFNB4, vestibular function remains inconclusive. We evaluated the vestibular function of 31 patients with bi-allelic mutations in SLC26A4/pendrin and analyzed genetic, radiological, and audiological correlations with vestibular function. Read More

Int J Pediatr Otorhinolaryngol 2016 Mar 7;82:47-53. Epub 2016 Jan 7.

Department of Radiodiagnosis, PGIMER, Chandigarh, India.

Objective: To study the outcome analysis in cochlear implantees in relation to depth of insertion.

Methods: 30 patients of non-syndromic congenital profound hearing loss in the age range of 2-12 years received cochlear implantation by a posterior tympanotomy round window approach. Depth of insertion was calculated using post-operative X-rays (modified Stenver's view) and categorized into four groups, viz. Read More

BMC Med Genet 2016 Jan 22;17. Epub 2016 Jan 22.

Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, 41566, South Korea.

Background: One of the causes of sensorineural hearing loss (SNHL) is degeneration of the inner hair cells in the organ of Corti in the cochlea. The SLC17A8 (solute carrier family 17, member 8) gene encodes vesicular glutamate transporter 3 (VGLUT3), and among its isoforms (VGLUT1-3), only VGLUT3 is expressed selectively in the inner hair cells (IHCs). VGLUT3 transports the neurotransmitter glutamate into the synaptic vesicles of the IHCs. Read More

Acta Otolaryngol 2016 4;136(3):277-82. Epub 2015 Dec 4.

a Department of Otolaryngology Head and Neck Surgery , Institute of Otology, the Second Xiangya Hospital, Central South University , Changsha , PR China ;

Conclusions: Previous studies have stated the roles and correlation of the four TFs (Sox2, Atoh1, Neurog1, and Neurod1) in the development of neurosensory cells. but whether they are inherited pathogenic factors to cause non-syndromic sensorineural hearing loss is unknown so far. This is the first time for screening the Sox2, Atoh1, Neurog1, and Neurod1 genes in children with NSHL. Read More

Int J Pediatr Otorhinolaryngol 2015 Dec 23;79(12):2248-52. Epub 2015 Oct 23.

Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University School of Medicine, Shanghai, China; Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai, China. Electronic address:

Objectives: To investigate the genetic cause of the patients with non-syndromic enlarged vestibular aqueduct (EVA) but without bi-allelic SLC26A4 mutations.

Methods: Presence of a homozygous genomic deletion was detected in a Chinese Han deaf patient (D1467-1) who failed to amplify the first three exons of SLC26A4. The breakpoints of the deletion were fine-mapped and revealed by PCR amplification and sequencing. Read More

Hum Mol Genet 2015 Dec 29;24(24):7017-30. Epub 2015 Sep 29.

Department of Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah, 65 Mario Capecchi Drive, Salt Lake City, UT 84132, USA, Department of Neurobiology and Anatomy, University of Utah, 20 North 1900 East, Salt Lake City, UT 84132, USA, Division of Otolaryngology, Department of Surgery, University of Utah, 50 North Medical Drive, Salt Lake City, UT 84132, USA

The DFNB31 gene plays an indispensable role in the cochlea and retina. Mutations in this gene disrupt its various isoforms and lead to non-syndromic deafness, blindness and deaf-blindness. However, the known expression of Dfnb31, the mouse ortholog of DFNB31, in vestibular organs and the potential vestibular-deficient phenotype observed in one Dfnb31 mutant mouse (Dfnb31(wi/wi)) suggest that DFNB31 may also be important for vestibular function. Read More

Hum Mutat 2015 Dec 27;36(12):1168-75. Epub 2015 Aug 27.

Department of Otorhinolaryngology, Yonsei University College of Medicine, Seoul, Republic of Korea.

DFNA9 is an autosomal dominant disorder characterized by late-onset, non-syndromic hearing loss, and vestibular dysfunction. Mutations in the COCH (coagulation factor C homology) gene encoding cochlin are etiologically linked to DFNA9. Previous studies have shown that cochlin is cleaved by aggrecanase-1 during inflammation in the spleen and that the cleaved LCCL domain functions as an innate immune mediator. Read More

Audiol Neurootol 2015 24;20(4):267-72. Epub 2015 Jun 24.

Otopathology Laboratory, Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Boston, Mass., USA.

Alström's syndrome is an autosomal recessive syndromic genetic disorder caused by mutations in the ALMS1 gene. Sensorineural hearing loss occurs in greater than 85% of patients. Histopathology of the inner ear abnormalities in the human has not previously been fully described. Read More

Int J Pediatr Otorhinolaryngol 2015 Aug 11;79(8):1351-3. Epub 2015 Jun 11.

Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai, China. Electronic address:

Objectives: Recessive mutations of SLC26A4 are the major cause of hearing impairment associated with enlarged vestibular aqueduct (EVA). In a significant percentage of non-syndromic EVA patients, however, only mono-allelic mutations of SLC26A4 can be identified. In this study, we aimed to evaluate whether presence of mono-allelic mutations of SLC26A4 in those patients was coincidental or etiologically associated with the disorder. Read More

Gene 2015 Oct 18;570(2):272-6. Epub 2015 Jun 18.

Department of Otolaryngology, Head & Neck Surgery, Chinese PLA General Hospital, Beijing 100853, China. Electronic address:

Background: Disease-associated mutations in GJB2 gene are one of the major reasons that can cause non-syndromic sensorineural hearing loss (NSHL). GJB2 gene deafness has various clinical phenotypes. This study aims to analyze characteristics and relationships of clinical phenotypes through analyzing 1481 NSHL cases and 190 GJB2 deafness patients (with dual gene mutations). Read More

Biochem Pharmacol 2015 Sep 11;97(1):1-15. Epub 2015 Jun 11.

University of Mississippi Medical Center, Department of Neurobiology and Anatomical Sciences, 2500 N. State St., Jackson, MS 39216, USA. Electronic address:

Hearing loss afflicts approximately 15% of the world's population, and crosses all socioeconomic boundaries. While great strides have been made in understanding the genetic components of syndromic and non-syndromic hearing loss, understanding of the mechanisms underlying noise-induced hearing loss (NIHL) have come much more slowly. NIHL is not simply a mechanism by which older individuals loose their hearing. Read More

Int J Audiol 2015 30;54(9):593-8. Epub 2015 Apr 30.

* Department of Genetics and Evolutionary Biology, Biosciences Institute, University of São Paulo , Brazil.

Objective: To identify novel genetic causes of syndromic hearing loss in Brazil.

Design: To map a candidate chromosomal region through linkage studies in an extensive Brazilian family and identify novel pathogenic variants using sequencing and array-CGH.

Study Sample: Brazilian pedigree with individuals affected by BO syndrome characterized by deafness and malformations of outer, middle and inner ear, auricular and cervical fistulae, but no renal abnormalities. Read More

Mol Cytogenet 2015 20;8:18. Epub 2015 Mar 20.

Ceinge Biotecnologie Avanzate, Naples, Italy ; Istituto di Audiologia, Dipartimento di Neuroscienze, Scienze Riproduttive e Odontostomatologiche, Università di Napoli "Federico II", Naples, Italy.

Background: Sensorineural hearing impairment is a common pathological manifestation in patients affected by X-linked intellectual disability. A few cases of interstitial deletions at Xq21 with several different phenotypic characteristics have been described, but to date, a complete molecular characterization of the deletions harboring disease-causing genes is still missing. Thus, the aim of this study is to realize a detailed clinical and molecular analysis of a family affected by syndromic X-linked hearing loss with intellectual disability. Read More

PLoS Genet 2015 Mar 27;11(3):e1005137. Epub 2015 Mar 27.

Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology University of Iowa, Iowa City, Iowa, United States of America; Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, Iowa, United States of America.

Hereditary hearing loss is a clinically and genetically heterogeneous disorder. More than 80 genes have been implicated to date, and with the advent of targeted genomic enrichment and massively parallel sequencing (TGE+MPS) the rate of novel deafness-gene identification has accelerated. Here we report a family segregating post-lingual progressive autosomal dominant non-syndromic hearing loss (ADNSHL). Read More

Childs Nerv Syst 2015 Apr 17;31(4):515-9. Epub 2015 Feb 17.

Unit of Audiology and Neurootology, Institute for Mother and Child Health Care of Serbia "Dr Vukan Čupić", Radoja Dakica 8-12 Street, Belgrade, 11000, Serbia,

Introduction: Three out of 1000 newborns are affected by a hearing loss, one of these being profound congenital deafness, whereas in the population of children treated in the intensive care unit, the incidence is 1:50. The purpose of this paper is to show in which genetic diseases and syndromes that hearing impairment can occur.

Discussion: A large number of pathological conditions, (genetic, infectious, and metabolic) can manifest themselves in a conductive or sensorineural hearing loss. Read More