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Genetics of deafness

Lianhua Sun, Xiaohua Li, Jun Shi, Xiuhong Pang, Yechen Hu, Xiaowen Wang, Hao Wu, Tao Yang
Waardenburg syndrome (WS) characterized by sensorineural hearing loss and pigmentary abnormalities is genetically heterogeneous and phenotypically variable. This study investigated the molecular etiology and genotype-phenotype correlation of WS in 36 Chinese Han deaf probands and 16 additional family members that were clinically diagnosed with WS type I (WS1, n = 8) and type II (WS2, n = 42). Mutation screening of six WS-associated genes detected PAX3 mutations in 6 (86%) of the 7 WS1 probands. Among the 29 WS2 probands, 13 (45%) and 10 (34%) were identified with SOX10 and MITF mutations, respectively...
October 19, 2016: Scientific Reports
John Patton, Carmen Brewer, Wade Chien, Jennifer J Johnston, Andrew J Griffith, Leslie G Biesecker
Variants in the unconventional myosin gene, MYO1A, have been reported to cause non-syndromic sensorineural hearing loss with a pattern of autosomal dominant inheritance. Others have challenged this association. We used a genotypic ascertainment study design to test the association of MYO1A variants with hearing loss. We evaluated MYO1A variants from a cohort of 951 individuals with exome sequencing who were not ascertained for hearing loss. Five individuals had one of two variants claimed to be associated with sensorineural hearing loss in a prior study and 33 individuals had one of 13 predicted deleterious variants...
October 19, 2016: European Journal of Human Genetics: EJHG
Stephanie Kletke, Vaishnavi Batmanabane, Tianyang Dai, Ajoy Vincent, Shuning Li, Karen A Gordon, Blake C Papsin, Sharon L Cushing, Elise Héon
The co-occurrence of hearing impairment and visual dysfunction is devastating. Most deaf-blind etiologies are genetically determined, the commonest being Usher syndrome (USH). While studies of the congenitally deaf population reveal a variable degree of visual problems, there are no effective ophthalmic screening guidelines. We hypothesized that children with congenital sensorineural hearing loss (SNHL) and vestibular impairment were at an increased risk of having Usher syndrome. A retrospective chart review of 33 cochlear implants recipients for severe to profound SNHL and measured vestibular dysfunction was done to determine the ocular phenotype...
October 15, 2016: Clinical Genetics
Maryam Beheshtian, Mojgan Babanejad, Hela Azaiez, Niloofar Bazazzadegan, Diana Kolbe, Christina Sloan-Heggen, Sanaz Arzhangi, Kevin Booth, Marzieh Mohseni, Kathy Frees, Mohammad Hossein Azizi, Ahmad Daneshi, Mohammad Farhadi, Kimia Kahrizi, Richard Jh Smith, Hossein Najmabadi
A significant contribution to the causes of hereditary hearing impairment comes from genetic factors. More than 120 genes and 160 loci have been identified to be involved in hearing impairment. Given that consanguine populations are more vulnerable to most inherited diseases, such as hereditary hearing loss (HHL), the genetic picture of HHL among the Iranian population, which consists of at least eight ethnic subgroups with a high rate of intermarriage, is expected to be highly heterogeneous. Using an electronic literature review through various databases such as PubMed, MEDLINE, and Scopus, we review the current picture of HHL in Iran...
October 1, 2016: Archives of Iranian Medicine
Flavia Palombo, Nadia Al-Wardy, Guido Alberto Gnecchi Ruscone, Manuela Oppo, Mohammed Nasser Al Kindi, Andrea Angius, Khalsa Al Lamki, Giorgia Girotto, Tania Giangregorio, Matteo Benelli, Alberto Magi, Marco Seri, Paolo Gasparini, Francesco Cucca, Marco Sazzini, Mazin Al Khabori, Tommaso Pippucci, Giovanni Romeo
The increased risk for autosomal recessive disorders is one of the most well-known medical implications of consanguinity. In the Sultanate of Oman, a country characterized by one of the highest rates of consanguineous marriages worldwide, prevalence of genetic hearing loss (GHL) is estimated to be 6/10 000. Families of GHL patients have higher consanguinity rates than the general Omani population, indicating a major role for recessive forms. Mutations in GJB2, the most commonly mutated GHL gene, have been sporadically described...
October 13, 2016: Journal of Human Genetics
Ling Zong, Kaitian Chen, Xuan Wu, Min Liu, Hongyan Jiang
OBJECTIVE: Identification of rare deafness genes for inherited congenital sensorineural hearing impairment remains difficult, because a large variety of genes are implicated. In this study we applied targeted capture and next-generation sequencing to uncover the underlying gene in a three-generation Han family segregating recessive inherited hearing loss and retinitis pigmentosa. METHODS: After excluding mutations in common deafness genes GJB2, SLC26A4 and the mitochondrial gene, genomic DNA of the proband of a Han family was subjected to targeted next-generation sequencing...
November 2016: International Journal of Pediatric Otorhinolaryngology
Yongzhi Liu, Liying Ao, Haitao Ding, Dongli Zhang
The aim was to study the frequencies of common deafness-related mutations and their contribution to hearing loss in different regions of Inner Mongolia. A total of 738 deaf children were recruited from five different ethnic groups of Inner Mongolia, including Han Chinese (n=486), Mongolian (n=216), Manchurian (n=24), Hui (n=6) and Daur (n=6). Nine common mutations in four genes (GJB2, SLC26A4, GJB3 and mitochondrial MT-RNR1 gene) were detected by allele-specific PCR and universal array. At least one mutated allele was detected in 282 patients...
October 10, 2016: Genetics and Molecular Biology
Yoshifusa Abe, Masayuki Iyoda, Kandai Nozu, Satoshi Hibino, Kei Hihara, Yutaka Yamaguchi, Tomohiko Yamamura, Shogo Minamikawa, Kazumoto Iijima, Takanori Shibata, Kazuo Itabashi
We herein report a novel mutation in a Japanese family with an X-linked Alport syndrome (AS) mutation in COL4A5. Patient 1 was a 2-year-old Japanese girl. She and her mother (patient 2) had a history of proteinuria and hematuria without renal dysfunction, deafness, or ocular abnormalities. Pathological findings were consistent with AS, and a genetic analysis revealed that both patients had a heterozygous mutation (c.2767G>C) in exon 32. In summary, the identification of mutations and characteristic pathological findings was useful in making a diagnosis of AS...
2016: Internal Medicine
Rahul Mittal, Mayank Aranke, Luca H Debs, Desiree Nguyen, Amit P Patel, M'hamed Grati, Jeenu Mittal, Denise Yan, Prem Chapagain, Adrien A Eshraghi, Xue Zhong Liu
Ear is a complex system where appropriate ionic composition is essential for maintaining the tissue homeostasis and hearing function. Ion transporters and channels present in the auditory system plays a crucial role in maintaining proper ionic composition in the ear. The extracellular fluid, called endolymph, found in the cochlea of the mammalian inner ear is particularly unique due to its electrochemical properties. At an endocochlear potential of about +80 mV, signaling initiated by acoustic stimuli at the level of the hair cells is dependent on the unusually high potassium (K(+) ) concentration of endolymph...
October 5, 2016: Journal of Cellular Physiology
Tamilarasan Udhayabanu, Veedamali S Subramanian, Trevor Teafatiller, Vykuntaraju K Gowda, Varun S Raghavan, Perumal Varalakshmi, Hamid M Said, Balasubramaniem Ashokkumar
BACKGROUND: Brown-Vialetto-Van Laere Syndrome (BVVLS), a rare neurological disorder characterized by bulbar palsies and sensorineural deafness, is mainly associated with defective riboflavin transporters encoded by the SLC52A2 and SLC52A3 genes. METHODS: Here we present a 16-year-old BVVLS patient belonging to a five generation consanguineous family from Indian ethnicity with two homozygous missense mutations viz., c.421C>A [p.P141T] in SLC52A2 and c.62A>G [p...
November 1, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
Vittorio Magri, Emanuele Montanari, Emanuela Marras, Gianpaolo Perletti
Although fluoroquinolones are first-line agents for the treatment of National Institutes of Health (NIH) category II chronic bacterial prostatitis (CBP), therapy with these agents is not always feasible due to the increasing worldwide resistance of causative uropathogens. New therapeutic options are urgently required, as drugs such as β-lactam antibiotics distribute poorly to prostatic sites of infection and trimethoprim therapy is often unfeasible due to high resistance rates. The present study aimed to analyze the efficacy of aminoglycosides, administered to a cohort of 78 patients affected by fluoroquinolone-resistant CBP, or excluded from fluoroquinolone therapy due to various contraindications...
October 2016: Experimental and Therapeutic Medicine
Nader Salama
BACKGROUND: Kallmann syndrome (Kal S) is an isolated form of hypogonadotrophic hypogonadism in combination with a defect in smell sensation. Depending on the genetic form of the disease, a number of non-reproductive, non-olfactory abnormalities may also be existent. In the present report, we describe a male with Kal S associated with hearing loss, and the successful treatment of his sexual and reproductive defects. CASE: A 23-year-old Caucasian man presented with a lifelong lack of erection and ejaculation...
August 2016: International Journal of Reproductive Biomedicine (Yazd, Iran)
Sara Nader Marta, Roberto Yoshio Kawakami, Claudia Almeida Prado Piccino Sgavioli, Ana Eliza Correa, Guaniara D'Árk de Oliveira El Kadre, Ricardo Sandri Carvalho
Waardenburg syndrome (WS) is an inherited autosomal dominant genetic disorder presenting variable penetrance and expressivity, with an estimated prevalence of 1:42,000. Clinical characteristics of WS include lateral displacement of the internal eye canthus, hyperplasia of the medial portion of the eyebrows, prominent and broad nasal base, congenital deafness, pigmentation of the iris and skin, and white forelock. A 24-year-old male patient, previously diagnosed with WS, was referred to the Special Needs Dental Clinic of Sacred Heart University, Bauru, Brazil...
2016: Journal of Contemporary Dental Practice
Nadia M Al-Wardy, Mohammed N Al-Kindi, Mazin J Al-Khabouri, Yahya Tamimi, Guy Van Camp
OBJECTIVES: To identify genetic defects in an Omani family diagnosed with deafness.  METHODS: A cross-sectional association study was conducted at the Department of Biochemistry, College of Medicine and Health Sciences, Sultan Qaboos University, Al-Khoud, Oman and the Centre of Medical Genetics, University of Antwerp, Antwerp, Belgium between August 2010 and September 2014. Microsatellites markers for nine non-syndromic genes were used to genotype the defective locus using the extracted DNA from family members...
October 2016: Saudi Medical Journal
Faustino Núñez-Batalla, Carmen Jáudenes-Casaubón, Jose Miguel Sequí-Canet, Ana Vivanco-Allende, Jose Zubicaray-Ugarteche, Rubén Cabanillas-Farpón
Important progress in the fields of molecular genetics (principally) and diagnostic imaging, together with the lack of a consensus protocol for guiding the diagnostic process after confirming deafness by neonatal screening, have led to this new work document drafted by the Spanish Commission for the Early Detection of Child Deafness (Spanish acronym: CODEPEH). This 2015 Recommendations Document, which is based on the most recent scientific evidence, provides guidance to professionals to support them in making decisions regarding aetiological diagnosis...
September 16, 2016: Acta Otorrinolaringológica Española
Andrej Kral, Prasandhya A Yusuf, Rüdiger Land
The theory of predictive coding assumes that higher-order representations influence lower-order representations by generating predictions about sensory input. In congenital deafness, one identified dysfunction is a reduced activation of deep layers in the auditory cortex. Since these layers play a central role for processing top-down influences, congenital deafness might interfere with the integration of top-down and bottom-up information flow. Studies in humans suggest more deficits in higher-order than in primary cortical areas in congenital deafness...
September 13, 2016: Hearing Research
Kathryn Y Noonan, Jack Russo, Jun Shen, Heidi Rehm, Sara Halbach, Einar Hopp, Sarah Noon, Jacqueline Hoover, Clifford Eskey, James E Saunders
OBJECTIVE: To investigate the prevalence and relative risk of semicircular canal dehiscence (SCD) in pediatric patients with CDH23 pathogenic variants (Usher syndrome or non-syndromic deafness) compared with age-matched controls. STUDY DESIGN: Retrospective cohort study. SETTING: Multi-institutional study. PATIENTS: Pediatric patients (ages 0-5 years) were compared based on the presence of biallelic pathogenic variants in CDH23 with pediatric controls who underwent computed tomography (CT) temporal bone scan for alternative purposes...
September 14, 2016: Otology & Neurotology
Silke Helbig, Youssef Adel, Tobias Rader, Timo Stöver, Uwe Baumann
OBJECTIVE: This study reviewed outcomes of hearing preservation (HP) surgery in a cochlear implant patient population, with clinical follow-up results up to 11 years after implantation. STUDY DESIGN: Retrospective case review. SETTING: Tertiary referral university hospital. PATIENTS: Ninety six patients (103 ears) with partial deafness who underwent HP surgery at the University Hospital Frankfurt since 1999 were included...
October 2016: Otology & Neurotology
Rabia Faridi, Atteeq U Rehman, Robert J Morell, Penelope L Friedman, Leigh Demain, Sana Zahra, Asma Ali Khan, Dalia Tohlob, Muhammad Zaman Assir, Glenda Beaman, Shaheen N Khan, William G Newman, Sheikh Riazuddin, Thomas B Friedman
Perrault syndrome (PS) is a genetically heterogeneous disorder characterized by primary ovarian insufficiency (POI) in females and sensorineural hearing loss in males and females. In many PS subjects, causative variants have not been found in the five reported PS genes. The objective of this study was to identify the genetic cause of PS in an extended consanguineous family with six deaf individuals. Whole exome sequencing (WES) was completed on four affected members of a large family, and variants and co-segregation was confirmed by Sanger sequencing...
September 15, 2016: Clinical Genetics
Kentaro Mori, Hideaki Moteki, Maiko Miyagawa, Shin-Ya Nishio, Shin-Ichi Usami
Sensorineural hearing loss is one of the most common neurosensory disorders in humans. The incidence of SNHL is estimated to be 1 in 500-1000 newborns. In more than half of these patients, the hearing loss is associated with genetic causes. In Japan, genetic testing for the patients with SNHL using the Invader assay to screen for 46 mutations in 13 deafness genes was approved by the Ministry of Health, Labour and Welfare for inclusion in social health insurance coverage in 2012. Furthermore, from August 2015, this genetic testing has been expanded to screen for 154 mutations in 19 deafness genes using targeted genomic enrichment with massively parallel DNA sequencing combined with the Invader assay and TaqMan genotyping...
2016: PloS One
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