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congenital sensorineural hearing loss

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https://www.readbyqxmd.com/read/28542515/a-novel-frameshift-mutation-of-smpx-causes-a-rare-form-of-x-linked-nonsyndromic-hearing-loss-in-a-chinese-family
#1
Zhijie Niu, Yong Feng, Lingyun Mei, Jie Sun, Xueping Wang, Juncheng Wang, Zhengmao Hu, Yunpeng Dong, Hongsheng Chen, Chufeng He, Yalan Liu, Xinzhang Cai, Xuezhong Liu, Lu Jiang
X-linked hearing impairment is the rarest form of genetic hearing loss (HL) and represents only a minor fraction of all cases. The aim of this study was to investigate the cause of X-linked inherited sensorineural HL in a four-generation Chinese family. A novel duplication variant (c.217dupA, p.Ile73Asnfs*5) in SMPX was identified by whole-exome sequencing. The frameshift mutation predicted to result in the premature truncation of the SMPX protein was co-segregated with the HL phenotype and was absent in 295 normal controls...
2017: PloS One
https://www.readbyqxmd.com/read/28501927/cytokine-gene-polymorphism-associations-with-congenital-cytomegalovirus-infection-and-sensorineural-hearing-loss
#2
B Kasztelewicz, J Czech-Kowalska, B Lipka, B Milewska-Bobula, M K Borszewska-Kornacka, J Romańska, K Dzierżanowska-Fangrat
Cytomegalovirus (CMV) is the most common viral agent of congenital infections and a leading nongenetic cause of sensorineural hearing loss (SNHL). The host immunologic factors that render a developing foetus prone to intrauterine CMV infection and development of hearing loss are unknown. The aim of this study was to assess the potential associations between the polymorphisms within cytokine and cytokine receptors genes, and the risk of congenital CMV infection, and the hearing outcome. A panel of 11 candidate single nucleotide polymorphisms (SNPs): TNF rs1799964, TNF rs1800629, TNFRSF1A rs4149570, IL1B rs16944, IL1B rs1143634, IL10 rs1800896, IL10RA rs4252279, IL12B rs3212227, CCL2 rs1024611, CCL2 rs13900, CCR5 rs333 was genotyped in 470 infants (72 with confirmed intrauterine CMV infection and 398 uninfected controls), and related to congenital CMV infection, and the outcome...
May 13, 2017: European Journal of Clinical Microbiology & Infectious Diseases
https://www.readbyqxmd.com/read/28487785/pathogenic-variant-in-actb-p-arg183trp-causes-juvenile-onset-dystonia-hearing-loss-and-developmental-delay-without-midline-malformation
#3
Erin Conboy, Filippo Vairo, Darrel Waggoner, Carole Ober, Soma Das, Radhika Dhamija, Eric W Klee, Pavel Pichurin
ACTB encodes the β-actin, and pathogenic variations in this gene have typically been associated with Baraitser-Winter cerebrofrontofacial syndrome, a congenital malformation syndrome characterized by short stature, craniofacial anomalies, and cerebral anomalies. Here, we describe the third case with the p.Arg183Trp variant in ACTB causing juvenile-onset dystonia. Our patient has severe, intractable dystonia, developmental delay, and sensorineural hearing loss, besides hyperintensities in the caudate nuclei and putamen on the brain MRI, which is a distinct but overlapping phenotype with the previously reported case of identical twins with the same alteration in ACTB...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28485697/management-and-outcomes-of-cochlear-implantation-in-patients-with-congenital-cytomegalovirus-ccmv-related-deafness
#4
Andrew Wesley Hoey, Irumee Pai, Sandra Driver, Steve Connor, Elizabeth Wraige, Dan Jiang
OBJECTIVE: Congenital Cytomegalovirus (cCMV) is a well-defined cause for neonatal mortality and morbidity, particularly sensorineural hearing loss and other neurodevelopmental disruption. We present a retrospective study which provides an overview of the assessment and preoperative work-up for patients diagnosed with cCMV and their cochlear implant (CI) outcomes. METHOD: This was a retrospective case series study of all children with a confirmed diagnosis of cCMV who underwent cochlear implantation at St Thomas' Hospital from 2003 to 2015...
May 9, 2017: Cochlear Implants International
https://www.readbyqxmd.com/read/28484279/diffusion-kurtosis-imaging-of-microstructural-alterations-in-the-brains-of-paediatric-patients-with-congenital-sensorineural-hearing-loss
#5
Wenbin Zheng, Chunxiao Wu, Lexing Huang, Renhua Wu
Our aim was to assess microstructural alterations in the cerebrums of paediatric patients with congenital sensorineural hearing loss (SNHL) using diffusion kurtosis imaging (DKI). Seventy-two paediatric SNHL patients and 38 age-matched healthy volunteers were examined via DKI using a 3.0 T magnetic resonance (MR) imager. Fractional anisotropy (FA) and mean kurtosis (MK) values were computed for 12 cerebral regions in both the controls and the SNHL patients. Compared with patients below age 3, patients in the older age group were found to have more significant differences in MK than in FA, and these appeared in more major areas of the brain...
May 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28483258/universal-newborn-hearing-screening-in-southwestern-iran
#6
Nader Saki, Arash Bayat, Reza Hoseinabadi, Soheila Nikakhlagh, Majid Karimi, Rezvan Dashti
OBJECTIVES: The implementation of Neonatal Hearing Screening (NHS) program is still at the preliminary stage particularly in developing countries despite the burden of permanent congenital and early-onset hearing impairment. The purpose of this study was to report results for universal newborn NHS in a cohort of children born in the southwestern region of Iran, as part of a national screening program set up by the Iranian National Health System. METHODS: During this cross-sectional study, which took place between March 2013 and April 2016, healthy newborns were screened using transient evoked otoacoustic emissions (TEOAEs) and automated auditory brainstem responses (AABRs) methods at several points in time as early as possible after birth...
June 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28483247/does-cerebellar-flocculus-size-affect-subjective-outcomes-in-pediatric-auditory-brainstem-implantation
#7
Sunil Goyal, Shyam Sundar Krishnan, Mohan Kameswaran, M C Vasudevan, Ranjith, Kiran Natarajan
OBJECTIVES: The objectives of study was to 1) Describe relevant surgical anatomy in defining and accessing the lateral recess for placement of electrode, 2) Propose a working classification for grades of Flocculus; 3) To determine if different grades of cerebellar flocculus effects placement of ABI electrode and subjective outcomes in implantees. METHODS: Our study was a prospective study, and comprised of cohort of 12 patients who underwent ABI surgery via retrosigmoid approach between 1 Jan 2012 to 31 Dec 2014...
June 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28468898/contribution-of-targeted-saliva-screening-for-congenital-cmv-related-hearing-loss-in-newborns-who-fail-hearing-screening
#8
Daphne Ari-Even Roth, Daniel Lubin, Jacob Kuint, Michal Teperberg-Oikawa, Ella Mendelson, Tzipora Strauss, Galia Barkai
BACKGROUND: We previously reported a 2.2% rate of infants born with sensorineural hearing loss (SNHL) due to congenital cytomegalovirus (cCMV) infection identified by universal neonatal screen for cCMV using saliva. OBJECTIVE: To evaluate the contribution of targeted saliva screening for cCMV to the detection of infants born with cCMV-related SNHL who failed universal newborn hearing screening (UNHS). METHODS: We retrospectively reviewed the audiological and medical records of infants who failed UNHS and were tested for cCMV using saliva sample prior to discharge at Sheba Medical Center between 2014 and 2015...
May 3, 2017: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/28426234/the-otogl-p-arg925-variant-is-associated-with-moderate-hearing-loss-in-a-syrian-nonconsanguineous-family
#9
Rana Barake, Samer Abou-Rizk, Georges Nemer, Marc Bassim
AIMS: To screen for the genetic basis of congenital hearing loss in a Syrian family. METHODS: A Syrian patient living in Lebanon presented with moderate congenital hearing loss. The patient's large nonconsanguineous family was recruited. DNA was extracted from blood samples and sent for whole-exome sequencing. A detailed clinical examination along with audiograms was obtained for all subjects. RESULTS: Hearing loss was noted to be mild to moderate in the low and mid frequencies, sloping to moderate to severe in the high frequencies for all affected members...
April 20, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28416012/congenital-cytomegalovirus-infection-advances-and-challenges-in-diagnosis-prevention-and-treatment
#10
REVIEW
Concetta Marsico, David W Kimberlin
Cytomegalovirus (CMV) is the most frequent cause of congenital infection worldwide, with an estimated incidence in developing countries of 0.6-0.7% of all live births. The burden of disease related to congenital CMV in substantial, as it is the leading non-genetic cause of sensorineural hearing loss and an important cause of neurodevelopmental disabilities in children. Despite its clinical significance, congenital CMV infection often goes undetected because the majority of infected infants are asymptomatic at birth and screening programs have not been substantially implemented...
April 17, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28399055/long-term-visual-and-ocular-sequelae-in-patients-with-congenital-cytomegalovirus-infection
#11
Haoxing Jin, Gail J Demmler-Harrison, David K Coats, Evelyn A Paysse, Amit Bhatt, Jane C Edmond, Kimberly G Yen, Paul Steinkuller, Jerry Miller
BACKGROUND: Cytomegalovirus (CMV) is the most common congenital viral infection in the United States. Visual and ocular sequelae in adolescents and adults who are congenitally infected with CMV have not been well studied. Better understanding of the long-term visual and ocular sequelae can help with early detection, intervention, and appropriate educational accommodations. METHODS: This study evaluated 237 (77 symptomatic, 109 asymptomatic, and 51 control) patients who underwent a series of age-appropriate ophthalmologic, audiologic, and neurodevelopmental examinations from 1982 to 2013...
April 10, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28394407/novel-case-of-paternal-paracentric-inversion-causing-partial-trisomy-13-and-review-of-the-literature
#12
Chad Douglas, Stephen A Smith, Luis Rohena
Partial trisomies have often been reported secondary to inversion mutations. These occurrences are most frequently associated with pericentric inversions. In this report, we describe the first documented case of partial trisomy 13 secondary to a parental paracentric inversion, in this case a paternal paracentric 13q inversion. Our Patient exhibits a variety of clinical findings including global developmental delay with intellectual disability, sensorineural hearing loss, bilateral congenital polar cataracts with associated foveal and optic nerve hypoplasia, right retinal detachment, atrial septal defect, absence of corpus callosum, celiac disease, microcephaly, as well as other dysmorphic features...
June 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28390610/myo15a-splicing-mutations-in-hearing-loss-a-review-literature-and-report-of-a-novel-mutation
#13
REVIEW
Mahsa Motavaf, Mahdieh Soveizi, Majid Maleki, Nejat Mahdieh
Sensorineural hearing loss (SNHL) is the most prevalent genetic sensory defect in humans, affecting about 1 in 1000 newborns around the world. Non-syndromic SNHL accounts for nearly 70% of hereditary hearing loss and 80% of SNHL cases show an autosomal recessive mode of inheritance (ARNSHL). In the present study, we applied targeted-exome sequencing to a family with a single proband affected by congenital sensorineural hearing loss. 127 known genes were sequenced to find the causative mutation. One novel homozygous donor splice site mutation, c...
May 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28383538/long-term-outcomes-of-children-with-symptomatic-congenital-cytomegalovirus-disease
#14
T M Lanzieri, J Leung, A C Caviness, W Chung, M Flores, P Blum, S R Bialek, J A Miller, S S Vinson, M R Turcich, R G Voigt, G Demmler-Harrison
OBJECTIVE: To assess long-term outcomes of children with symptomatic congenital cytomegalovirus (CMV) disease detected at birth. STUDY DESIGN: We used Cox regression to assess risk factors for intellectual disability (intelligence quotient <70), sensorineural hearing loss (SNHL; hearing level ⩾25 dB in any audiometric frequency) and vision impairment (best corrected visual acuity >20 or based on ophthalmologist report). RESULTS: Among 76 case-patients followed through median age of 13 (range: 0-27) years, 56 (74%) had SNHL, 31 (43%, n=72) had intellectual disability and 18 (27%, n=66) had vision impairment; 28 (43%, n=65) had intellectual disability and SNHL with/without vision impairment...
April 6, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28366032/etiology-of-single-sided-deafness-and-asymmetrical-hearing-loss
#15
Shin-Ichi Usami, Ryosuke Kitoh, Hideaki Moteki, Shin-Ya Nishio, Tomohiro Kitano, Masafumi Kobayashi, Jun Shinagawa, Yoh Yokota, Kenjiro Sugiyama, Kizuki Watanabe
CONCLUSIONS: The present study revealed that various etiologies are involved in single-sided deafness (SSD), and that the cause of SSD and asymmetrical hearing loss (AHL) differed greatly between congenital/early-onset cases and adult cases. Clarification of the etiology is the first step toward providing appropriate intervention. OBJECTIVES: The study aimed to clarify the etiology of SSD and AHL patients. METHODS: The etiology of a total of 527 SSD or AHL patients who visited Shinshu University Hospital between 2006 and 2016 were analyzed by imaging as well as serological tests for mumps virus, and CMV DNA testing...
April 1, 2017: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/28364778/clinical-and-molecular-findings-in-a-moroccan-family-with-jervell-and-lange-nielsen-syndrome-a-case-report
#16
N Adadi, N Lahrouchi, R Bouhouch, I Fellat, R Amri, M Alders, A Sefiani, C Bezzina, I Ratbi
BACKGROUND: Jervell and Lange-Nielsen syndrome (Online Mendelian Inheritance in Man 220400) is a rare autosomal recessive cardioauditory ion channel disorder that affects 1/200,000 to 1/1,000,000 children. It is characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval, ventricular tachyarrhythmias, and episodes of torsade de pointes on an electrocardiogram. Cardiac symptoms arise mostly in early childhood and consist of syncopal episodes during periods of stress, exercise, or fright and are associated with a high risk of sudden cardiac death...
April 2, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28346292/bilateral-labyrinthine-and-internal-auditory-canal-enhancement-in-an-infant-with-severe-labyrinthine-dysplasia-a-previously-unreported-phenomenon
#17
Charles L Anzalone, Mai Lan Ho, Neil S Patel, Lisa A Schimmenti, Melissa D DeJong, Matthew L Carlson
OBJECTIVE: To describe a novel case of congenital profound bilateral sensorineural hearing loss in a patient with bilateral nodular internal auditory canal and labyrinthine enhancement and temporal bone dysplasia. PATIENTS: A 76-day-old female was referred to the authors' center for evaluation of congenital deafness. Behavioral observations and objective audiometric evaluation demonstrated bilateral profound sensorineural hearing loss and a comprehensive multidisciplinary evaluation identified compound heterozygous pathogenic variants in MYO7A, a gene associated with Usher Syndrome Type 1B or DFNB2...
June 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28332898/herpes-simplex-virus-1-and-cytomegalovirus-dnas-detection-in-the-inner-ear-of-implanted-patients-with-non-congenital-infection
#18
Walter Di Nardo, Roberta Anzivino, Paola Cattani, Rosaria Santangelo, Eugenio De Corso, Gaetano Paludetti
CONCLUSIONS: The detection of cytomegalovirus (CMV) and herpes simplex virus-1 (HSV-1) genome in perilymph of patients with negative serology or clinical history for congenital infections supports the hypothesis that Herpesviridae, even after acquired postnatal infections, could remain in latent phase in the spiral ganglion and damage the cochlea by a possible subsequent reactivation. Further studies are needed to identify the markers of such reactivation. OBJECTIVE: To identify the presence of certain viral species in the endolabyrinthic fluid of deaf patients with non-congenital infection...
March 23, 2017: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/28322432/bilateral-congenital-deafness-what-investigations-should-be-performed
#19
Nicolas Gürtler, Claudine Gysin, Nevenka Schmid, Claudia Pieren, Mattheus Vischer, Stefan Schumacher, Peter Oppermann, Daniel Leuba, Dorothée Veraguth
BACKGROUND: The introduction of newborn hearing screening has led to earlier identification of children with congenital sensorineural hearing loss (SNHL). Aetiological clarification offers several benefits. There is currently a lack of agreement on which examinations should be recommended. OBJECTIVE: Descriptive review of the literature reporting investigations performed to establish the aetiology of congenital SNHL and comparison of the management policy in Swiss referral centres...
March 21, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/28320335/mitochondrial-mutations-in-maternally-inherited-hearing-loss
#20
Hideki Mutai, Takahisa Watabe, Kenjiro Kosaki, Kaoru Ogawa, Tatsuo Matsunaga
BACKGROUND: Although the mitochondrial DNA (mtDNA) mutations m.1555A > G and m.3243A > G are the primary causes of maternally inherited sensorineural hearing loss (SNHL), several other mtDNA mutations are also reported to be associated with SNHL. METHODS: Screening of m.1555A > G and m.3243A > G mutations was performed for 145 probands. Nine probands fulfilled the following criteria: 1) bilateral and symmetric SNHL, 2) ≥ 4 family members with SNHL with a maternal trait of inheritance in ≥ 2 generations, 3) onset of SNHL before the age of 40 years, 4) high-frequency SNHL, and 5) no record of environmental factors related to SNHL...
March 20, 2017: BMC Medical Genetics
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