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Felippe Felix, Marcia Gonçalves Ribeiro, Shiro Tomita, Mariano Gustavo Zalis
INTRODUCTION: In different parts of the world, mutations in the GJB2 gene are associated with nonsyndromic hearing loss, and the homozygous 35delG mutation (p.Gly12Valfs*2) is a major cause of hereditary hearing loss. However, the 35delG mutation is not equally prevalent across ethnicities, making it important to study other mutations, especially in multiethnic countries such as Brazil. OBJECTIVE: This study aimed to identify different mutations in the GJB2 gene in patients with severe to profound nonsyndromic sensorineural hearing loss of putative genetic origin, and who were negative or heterozygote for the 35delG mutation...
November 21, 2017: Brazilian Journal of Otorhinolaryngology
Diana Bartenstein, Hye Jin Chung, Sadaf Hussain
Keratitis-ichthyosis-deafness (KID) syndrome is a rare genodermatosis that typically results from mutations of the GJB2 gene or, less commonly, the GJB6 gene. Patients with KID syndrome are at higher risk of malignancy and infections. Here, we present 2 patients with KID syndrome who developed verrucous plaques. Given that patients with KID syndrome are at high risk of developing squamous cell carcinoma, biopsies were performed. Both cases revealed histologic findings of marked papillomatous epidermal hyperplasia with numerous fungal spores and pseudohyphae in the stratum corneum...
May 3, 2018: American Journal of Dermatopathology
Wan-Xin Li, Hong Peng, Le Yang, Qing-Qing Hao, Wei Sun, Fei Ji, Wei-Wei Guo, Shi-Ming Yang
BACKGROUND: Familial nonsyndromic hearing loss (NSHL) with incomplete partition type II (IP-II) is a very rare condition. AIMS/OBJECTIVES: To determine the audiological feature, inheritance patterns and genetic etiology of familial NSHL with IP-II in a Chinese family with eight family members. MATERIAL AND METHODS: Clinical data were collected from all eight family members, selected deafness genes were sequenced in proband and whole genome sequencing of seven family members was performed...
May 9, 2018: Acta Oto-laryngologica
Chao Wang, Shengzhou Wang, Hongyan Chen, Daru Lu
Hearing loss is an etiologically heterogeneous trait with a high incidence in China. Though conventional newborn hearing screening program has been widely adopted, gene detection can significantly improve the means of early discovering genetic risk factors. Thus, simple and efficient methods with higher sensitivity and lower cost for detecting hotspot mutations of hearing loss are urgently requested. Here we established a mutation detection system based on multiple fluorescent probe technique, which can detect and genotype nine hotspot mutations of four prominent hearing loss-related genes in two reactions on a four-channel real-time PCR instrument, including GJB2 (rs750188782, rs80338943, rs1110333204, and rs80338939), GJB3 (rs74315319), SLC26A4 (rs111033313 and rs121908362), and mtDNA 12S rRNA (rs267606617 and rs267606619)...
2018: BioMed Research International
Kyoko Kitao, Hideki Mutai, Kazunori Namba, Noriko Morimoto, Atsuko Nakano, Yukiko Arimoto, Tomoko Sugiuchi, Sawako Masuda, Yasuhide Okamoto, Noriko Morita, Hirokazu Sakamoto, Tomoko Shintani, Satoshi Fukuda, Kimitaka Kaga, Tatsuo Matsunaga
OBJECTIVES: Auditory neuropathy (AN) is a clinical disorder characterized by the absence of auditory brainstem response and presence of otoacoustic emissions. A gradual loss of otoacoustic emissions has been reported for some cases of AN. Such cases could be diagnosed as cochlear hearing loss and lead to misunderstanding of the pathology when patients first visit clinics after the loss of otoacoustic emissions. The purpose of this study was to investigate the time course of changes in distortion product otoacoustic emissions (DPOAEs) in association with patients' genetic and clinical backgrounds, including the use of hearing aids...
April 23, 2018: Ear and Hearing
Chun-Yi Lu, Po-Nien Tsao, Ying-Ying Ke, Yi-Hsin Lin, Yin-Hung Lin, Chia-Cheng Hung, Yi-Ning Su, Wei-Chung Hsu, Wu-Shiun Hsieh, Li-Min Huang, Chen-Chi Wu, Chuan-Jen Hsu
OBJECTIVE: To evaluate the feasibility and potential benefits of incorporating genetic and cytomegalovirus (CMV) screenings into the current newborn hearing screening (NHS) programs. STUDY DESIGN: Newborns were recruited prospectively from a tertiary hospital and a maternity clinic between May 2016 and December 2016 and were subjected to hearing screening, CMV screening, and genetic screening for 4 common mutations in deafness genes (p.V37I and c.235delC of GJB2 gene, c...
April 19, 2018: Journal of Pediatrics
Xi Shi, Yan Zhang, Shiwei Qiu, Wei Zhuang, Na Yuan, Tiantian Sun, Jian Gao, Yuehua Qiao, Ke Liu
OBJECTIVE: To investigate whether a novel compound heterozygous mutations c.257C>G (p.T86R)/c.176del16 (p.G59A fs*18) in GJB2 result in hearing loss. METHODS: Allele-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...
April 17, 2018: Journal of Clinical Laboratory Analysis
Bangqing Huang, Mingyu Han, Guojian Wang, ShaSha Huang, Jialing Zeng, Yongyi Yuan, Pu Dai
OBJECTIVES: To provide appropriate genetic testing and counseling for non-syndromic hearing impairment patients in Hainan Province, an island in the South China Sea. METHODS: 299 unrelated students with non-syndromic hearing loss who attended a special education school in Hainan Province were enrolled in this study. Three prominent deafness-related genes (GJB2, SLC26A4, and mtDNA 12S rRNA) were analyzed using Sanger sequencing. RESULTS: GJB2 mutations were detected in 32...
May 2018: International Journal of Pediatric Otorhinolaryngology
Kana Matsushima, Atsuko Nakano, Yukiko Arimoto, Hideki Mutai, Kazuki Yamazawa, Kei Murayama, Tatsuo Matsunaga
OBJECTIVE: Hearing loss caused by mutation of mitochondrial DNA typically develops in late childhood or early adulthood, but rarely in infancy. We report the investigation of a patient to determine the cause of his early onset hearing loss. MATERIALS AND METHODS: The proband was a boy aged 1 year and 2 months at presentation. Newborn hearing screening test by automated auditory brainstem response generated "pass" results for both ears. His reaction to sound deteriorated by 9 months...
May 2018: International Journal of Pediatric Otorhinolaryngology
Desiree DeMille, Colleen M Carlston, Oliver H Tam, Janice C Palumbos, Heather J Stalker, Rong Mao, Roberto T Zori, David H Viskochil, Albert H Park, John C Carey
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. Since we began offering GJB2 testing in 2003, only about 2% of detected GJB2 variants from our laboratory have been classified as dominant...
April 2018: American Journal of Medical Genetics. Part A
Haiqiong Shang, Denise Yan, Naeimeh Tayebi, Kolsoum Saeidi, Afsaneh Sahebalzamani, Yong Feng, Susan Blanton, Xuezhong Liu
Hearing loss (HL) is a common sensory disorder in humans with high genetic heterogeneity. To date, over 145 loci have been identified to cause nonsyndromic deafness. Furthermore, there are countless families unsuitable for the conventional linkage analysis. In the present study, we used a custom capture panel (MiamiOtoGenes) to target sequence 180 deafness-associated genes in 5 GJB2 negative deaf probands with autosomal recessive nonsyndromic HL from Iran. In these 5 families, we detected one reported and six novel mutations in 5 different deafness autosomal recessive (DFNB) genes (TRIOBP, LHFPL5, CDH23, PCDH15, and MYO7A) ...
2018: BioMed Research International
Yuyuan Deng, Zhijie Niu, LiangLiang Fan, Jie Ling, Hongsheng Chen, Xinzhang Cai, Lingyun Mei, Chufeng He, Xuewei Zhang, Jie Wen, Meng Li, Wu Li, Taoxi Li, Shushan Sang, Yalan Liu, Yong Feng
X-linked inheritance is very rare and is estimated to account for only 1-5% of all nonsyndromic hearing loss cases. We found a multiplex family from China segregating with X-linked nonsyndromic hearing loss. After exclusive analysis of 10 common variations of three hearing loss-related genes, GJB2, mtDNA12srRNA and SLC26A4, a novel truncated variant of SMPX, c.87dupA (p.Gly30Argfs*12) (NCBI ClinVar Submission ID: SUB3136126), was identified by whole-exome sequencing. This variant was co-segregated with hearing loss in the entire family and was absent in 576 unrelated ethnically and geographically matched controls...
March 20, 2018: Journal of Human Genetics
Aparna Prasad, Matthew A Sdano, Rena J Vanzo, Patricia A Mowery-Rushton, Moises A Serrano, Charles H Hensel, E Robert Wassman
BACKGROUND: Chromosomal microarray analysis (CMA) is recommended as the first-tier clinical diagnostic test for individuals with developmental disabilities. In addition to detecting copy number variations, CMA platforms with single nucleotide polymorphism probes can detect large homozygous regions within the genome, which represent potential risk for recessively inherited disorders. METHODS: To determine the frequency in which pathogenic or likely pathogenic variants can be detected in these regions of homozygosity, we performed whole exome sequencing (WES) in 53 individuals where homozygosity was detected by CMA...
March 20, 2018: BMC Medical Genetics
Shivani Mishra, Himani Pandey, Priyanka Srivastava, Kausik Mandal, Shubha R Phadke
OBJECTIVE: To determine the prevalence and spectrum of Connexin 26 (GJB2) mutations in pre-lingual non-syndromic hearing loss (NSHL) patients in authors' centre and to review the data of Indian patients from the literature. METHODS: Sanger sequencing of entire coding region contained in single exon (Exon 2) of GJB2 gene in 15 patients of NSHL. RESULTS: GJB2 mutations were found in 40% (6/15) of NSHL patients, out of which mono-allelic were 33...
March 15, 2018: Indian Journal of Pediatrics
Mahbobeh Koohiyan, Morteza Hashemzadeh-Chaleshtori, Mansoor Salehi, Hamidreza Abtahi, Somayeh Reiisi, Mohammad Reza Pourreza, Mohammad Reza Noori-Daloii, Mohammad Amin Tabatabaiefar
OBJECTIVE: Hereditary hearing loss (HL) is a noticeable concern in medicine all over the world. On average, 1 in 166 babies born are diagnosed with HL in Iran, which makes it a major public health issue. Autosomal recessive non-syndromic HL (ARNSHL) is the most prevalent form of HL. Although over 60 genes have been identified for ARNSHL, GJB2 mutations are the most prevalent causes of ARNSHL in many populations. Previous studies have estimated the average frequency of GJB2 mutations to be between 16 and 18% in Iran, but would vary among different ethnic groups...
April 2018: International Journal of Pediatric Otorhinolaryngology
Mohammad Amin Tabatabaiefar, Mohammad Reza Pourreza, Parisa Tahmasebi, Nader Saki, Morteza Hashemzadeh Chaleshtori, Rasoul Salehi, Javad Mohammadi-Asl
Objective Hearing loss (HL) is the most common sensory-neural defect and the most heterogeneous trait in humans, with the involvement of >100 genes, which make a molecular diagnosis problematic. Next-generation sequencing (NGS) is a new strategy that can overcome this problem. Study Design Descriptive experimental study. Setting Diagnostic laboratory. Subjects and Methods A comprehensive family history was obtained, and clinical evaluations and pedigree analysis were performed in a family with multiple individuals with HL...
February 1, 2018: Otolaryngology—Head and Neck Surgery
Simona Poisson Marková, Dana Šafka Brožková, Petra Laššuthová, Anna Mészárosová, Marcela Krůtová, Jana Neupauerová, Dagmar Rašková, Marie Trková, David Staněk, Pavel Seeman
INTRODUCTION: Hearing loss (HL) is the most common sensory deficit in humans. HL is an extremely heterogeneous condition presenting most frequently as a nonsyndromic (NS) condition inherited in an autosomal recessive (AR) pattern, termed DFNB. Mutations affecting the STRC gene cause DFNB type 16. Various types of mutations within the STRC gene have been reported from the U.S. and German populations, but no information about the relative contribution of STRC mutations to NSHL-AR among Czech patients is available...
February 2018: Genetic Testing and Molecular Biomarkers
Sen Chen, Le Xie, Kai Xu, Hai-Yan Cao, Xia Wu, Xiao-Xiang Xu, Yu Sun, Wei-Jia Kong
Mutations in the GJB2 gene [which encodes connexin 26 (Cx26)] are the most common causes of hereditary hearing loss in humans, and previous studies showed postnatal development arrest of the organ of Corti in different Cx26-null mouse models. To explore the pathological changes and the mechanism behind the cochlear abnormalities in these mice further, we established transgenic mouse models by conditional knockdown of cochlear Cx26 at postnatal day (P) 0 and P8. Auditory brainstem responses were recorded and the morphological features in the organ of Corti were analyzed 18 days after Cx26 knockdown...
February 26, 2018: Disease Models & Mechanisms
Ewa Kostrzeba, M Barczyk, M Wichtowski, R Garstecki, D Murawa
BACKGROUND: Clear cell carcinoma in scars after cesarean section is extremely rare, with only 22 cases reported in the literature. Management of this condition needs to be further explored. Here, we report of a patient with clear cell carcinoma of the abdominal wall that developed 35 years after cesarean section. CASE REPORT: The material of the study was a group of 61 patients divided into two groups. Group I - 35 deaf or with profound sensorineural hearing loss children (the pupils of the deaf and hard of hearing school), aged 5-17 years (average 9,2 years), 14 males, 21 females, II - control group comprised 26 normal hearing patients, aged 5-16 years (average 10,4 years), 14 males, 12 females (patients of Department of Pediatric Otolaryngology, Audiology and Phoniatrics, Medical University of Lodz)...
December 30, 2017: Polski Przeglad Chirurgiczny
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