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Pendred syndrome

Natalie Smith, Jean-Marie U-King-Im, Janaka Karalliedde
We describe a case of a delayed diagnosis of Pendred syndrome. The patient had a history of hearing loss from childhood and presented to the endocrine clinic when aged 32 with an enlarging goitre. The characteristic Mondini deformity was noted on auditory canal MRI scan. Genetic tests confirmed the diagnosis. Pendred syndrome is an autosomal recessive disorder, characterised by congenital sensorineural hearing loss, goitre and impaired iodide organification and can present at any age. We highlight to the general physician the classical features of this syndrome that would aid early diagnosis...
2016: BMJ Case Reports
A U Rehman, T B Friedman, A J Griffith
Human hearing loss is a common neurosensory disorder about which many basic research and clinically relevant questions are unresolved. This review on hereditary deafness focuses on three examples considered at first glance to be uncomplicated, however, upon inspection, are enigmatic and ripe for future research efforts. The three examples of clinical and genetic complexities are drawn from studies of (1) Pendred syndrome/DFNB4 (PDS, OMIM 274600), (2) Perrault syndrome (deafness and infertility) due to mutations of CLPP (PRTLS3, OMIM 614129), and (3) the unexplained extensive clinical variability associated with TBC1D24 mutations...
June 4, 2016: Oral Diseases
Kristianna Mey, Michael Bille, Per Cayé-Thomasen
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. The abnormal inner ear anatomy of these patients may be associated with a lower surgical success rate and a higher rate of complications...
October 2016: Acta Oto-laryngologica
A C Gonçalves, R Santos, A O'Neill, P Escada, G Fialho, H Caria
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). In about 50% of probands, mutations in the SLC26A4 gene are the cause of the disease. Here we report the case of a Portuguese female, aged 47, presenting with severe to profound HL and hypothyroidism. Her mother and sister, both deceased, had suffered from HL and goiter...
June 2016: Acta Otorhinolaryngologica Italica
Yoshihiro Noguchi, Satoshi Fukuda, Kunihiro Fukushima, Kiyofumi Gyo, Akira Hara, Tsutomu Nakashima, Kaoru Ogawa, Makito Okamoto, Hiroaki Sato, Shin-Ichi Usami, Tatsuya Yamasoba, Tetsuji Yokoyama, Ken Kitamura
OBJECTIVE: To document the clinical features and associated pure-tone audiometry data in patients with enlargement of the vestibular aqueduct (EVA), and to identify risk factors for fluctuating hearing loss (HL) and vertigo/dizziness in EVA patients. METHODS: In this nationwide survey in Japan, a first survey sheet was mailed to 662 board-certified otolaryngology departments to identify the ones treating EVA patients. A second survey sheet, which contained solicited clinical information and the results of the hearing tests, was mailed to all facilities that reported treating EVA cases...
May 6, 2016: Auris, Nasus, Larynx
Jinsei Jung, Jiyoon Kim, Shin Hye Roh, Ikhyun Jun, Robert D Sampson, Heon Yung Gee, Jae Young Choi, Min Goo Lee
Mutations in SLC26A4, which encodes pendrin, are responsible for hearing loss with an enlarged vestibular aqueduct and Pendred syndrome. The most prevalent mutation in East Asia is p.H723R (His723Arg), which leads to defects in protein folding and cell-surface expression. Here we show that H723R-pendrin can be rescued to the cell surface by an HSP70 co-chaperone DNAJC14-dependent unconventional trafficking pathway. Blockade of ER-to-Golgi transport or activation of ER stress signals induced Golgi-independent cell-surface expression of H723R-pendrin and restored its cell-surface Cl(-)/HCO3(-) exchange activity...
2016: Nature Communications
Makoto Hosoya, Masato Fujioka, Reona Kobayashi, Hideyuki Okano, Kaoru Ogawa
Ion homeostasis in the inner ear is essential for proper hearing. Anion exchangers are one of the transporters responsible for the maintenance of homeostasis, but their expression profile in the primate cochlea has not been fully characterized. However, species-specific overlapping expression patterns and functional compensation in other organs, such as the kidney, pancreas and small intestine, have been reported. Here, we determined the expression patterns of the anion exchangers SLC26A4, SLC26A5, SLC26A6, SLC26A7, SLC26A11, SLC4A2 and SLC4A3 in the cochlea of a non-human primate, the common marmoset (Callithrix jacchus)...
September 2016: Neuroscience Research
Mohemmed Ajij, Shambhavi, Bijoy Patra, Ankur Singh, Seema Kapoor
BACKGROUND: Pendred syndrome is a rare autosomal recessive condition, characterized by functional impairment of thyroid gland and sensorineural hearing loss. The syndrome presents in patients with homozygous or compound heterozygous mutation. The presentation in the form of neck mass in a newborn is rare. CASE CHARACTERISTICS: A 1 month old baby presented to us with neck mass, which was found to be an enlarged thyroid gland. Thyroid function tests were consistent with hypothyroidism...
August 2016: Journal of Tropical Pediatrics
Chunyun Fu, Haiyang Zheng, Shujie Zhang, Yun Chen, Jiasun Su, Jin Wang, Bobo Xie, Xuyun Hu, Xin Fan, Jingsi Luo, Chuan Li, Rongyu Chen, Yiping Shen, Shaoke Chen
OBJECTIVE: Pendred syndrome (PS) is an autosomal recessive disorder characterised by sensorineural hearing loss and thyroid dyshormonogenesis. It is caused by biallelic mutations in the SLC26A4 gene encoding for pendrin. Hypothyroidism in PS can be present from birth and therefore diagnosed by neonatal screening. The aim of this study was to examine the SLC26A4 mutation spectrum and prevalence among congenital hypothyroidism (CH) patients in the Guangxi Zhuang Autonomous Region of China and to establish how frequently PS causes hearing impairment in our patients with CH...
August 2016: Archives of Endocrinology and Metabolism
Xiaoyun Bai, Trevor F Moraes, Reinhart A F Reithmeier
The human solute carrier 26 (SLC26) family of anion transporters consists of ten members that are found in various organs in the body including the stomach, intestine, kidney, thyroid and ear where they transport anions including bicarbonate, chloride and sulfate, typically in an exchange mode. Mutations in these genes cause a plethora of diseases such as diastrophic dysplasia affecting sulfate uptake into chondrocytes (SLC26A2), congenital chloride-losing diarrhoea (SLC26A3) affecting chloride secretion in the intestine and Pendred's syndrome (SLC26A4) resulting in hearing loss...
March 1, 2016: Biochemical Journal
Young Joon Seo, Jinna Kim, Jae Young Choi
OBJECTIVES/HYPOTHESIS: Patients with enlarged vestibular aqueduct (EVA) often demonstrate an air-bone gap (ABG) at low frequencies on audiometric testing. The mechanism for this has not been well elucidated. We investigated vestibular aqueduct (VA) size and ABG in patients with EVA, and assessed the relationship between VA diameter and ABG. STUDY DESIGN: Retrospective review. METHODS: We assessed 98 ears from 49 individuals diagnosed with Pendred syndrome...
July 2016: Laryngoscope
J W I van Nierop, W J Huinck, R J E Pennings, R J C Admiraal, E A M Mylanus, H P M Kunst
OBJECTIVE: To evaluate the benefit of cochlear implantation in patients with Pendred syndrome. DESIGN: Retrospective study. SETTING: Tertiary centre. PARTICIPANTS AND MAIN OUTCOME MEASURES: Speech perception was measured using a phonetically balanced word list at a sound pressure level of 65 dB. Post-operative phoneme scores at 12-month for adults and 36-month for children with Pendred syndrome were compared to scores of patients with an enlarged vestibular aqueduct (EVA) and a reference group with an unknown cause of hearing impairment...
August 2016: Clinical Otolaryngology
Jamile C Silveira, Peter A Kopp
PURPOSE OF REVIEW: Thyroid hormones are essential for normal development, growth, and metabolism. Their synthesis occurs in thyroid follicles and requires an adequate iodide supply and a sequence of regulated biochemical steps. The uptake of iodide into thyrocytes is well characterized, but its efflux at the apical membrane is poorly understood. This review discusses potential mechanisms underlying iodide efflux with emphasis on recent developments and controversies. RECENT FINDINGS: The functional characterization of pendrin (PDS/SLC26A4), a multifunctional anion exchanger, suggested that it could be involved in mediating iodide efflux...
October 2015: Current Opinion in Endocrinology, Diabetes, and Obesity
Chun-Jui Huang, Tjin-Shing Jap
A systematic review of genetic studies of thyroid disorders in Taiwan identified studies of gene mutations involved in the synthesis and binding of thyroid hormone, as well as mutations of proto-oncogenes and tumor suppressor genes in thyroid cancer. Studies related to gene polymorphisms in patients with autoimmune thyroid disease (AITD) and thyroid cancer were also reviewed. The most prevalent mutations in the Han-Chinese population were c.2268insT in the thyroid peroxidase (TPO) gene and c.919-2A>G in the Pendred syndrome (PDS) gene...
March 2015: Journal of the Chinese Medical Association: JCMA
Lip Min Soh, Maralyn Druce, Ashley B Grossman, Ann-Marie Differ, Liala Rajput, Maria Bitner-Glindzicz, Márta Korbonits
DESIGN: Patients with Pendred syndrome have genotypic and phenotypic variability, leading to challenges in definitive diagnosis. Deaf children with enlarged vestibular aqueducts are often subjected to repeated investigations when tests for mutations in SLC26A4 are abnormal. This study provides genotype and phenotype information from patients with suspected Pendred syndrome referred to a single clinical endocrinology unit. METHODS: A retrospective analysis of 50 patients with suspected Pendred syndrome to investigate the correlation between genetic, perchlorate discharge test (PDT) and endocrine status...
February 2015: European Journal of Endocrinology
Jeong Hun Jang, Jinsei Jung, Ah Reum Kim, Young Mi Cho, Min Young Kim, Sang Yeon Lee, Jae Young Choi, Jun Ho Lee, Byung Yoon Choi
Mutations in the SLC26A4 gene, which encodes pendrin, cause congenital hearing loss as a manifestation of Pendred syndrome (PS) with an iodide organification defect or nonsyndromic enlarged vestibular aqueduct (NSEVA, DFNB4). There have been reports of differences between PS and NSEVA, including their auditory phenotypes and molecular genetic bases. For appropriate genetic diagnosis and counseling, it is important to functionally characterize SLC26A4 variants. In this study, we identified and evaluated a novel null mutation of SLC26A4 and report our method of assessing the pathogenic potential of mutations in SLC26A4, one of the most frequent causative genes of deafness in humans...
2014: Audiology & Neuro-otology
Er-Wei Hu, Li-Bin Liu, Ruo-Yu Jiang, Xiang-Hui He
Pendred syndrome is a rare genetic disease that causes a disturbance in thyroid hormone synthesis, which results in thyroid dysfunction and the development of goiter and sensorineural deafness. The present report describes the case of a young euthyroid male, who developed a large goiter and hearing impairment, despite no family history of these conditions. A left lobectomy and a subtotal right lobectomy were performed, and the patient was administered permanent hormone replacement therapy with thyroxine. Patients with Pendred syndrome exhibit distinct clinical features and the mechanisms associated with the molecular genetics of this disease have been clarified...
November 2014: Oncology Letters
Nasrin Yazdanpanahi, Mohammad Amin Tabatabaiefar, Nader Bagheri, Fatemeh Azadegan Dehkordi, Effat Farrokhi, Morteza Hashemzadeh Chaleshtori
OBJECTIVE: To determine the prevalence and types of SLC26A4 mutations and the relevant phenotypes in a series of Iranian deaf patients. DESIGN: A descriptive laboratory study. STUDY SAMPLE: One hundred and twenty-one families including 60 unrelated patients and 61 unrelated multiplex families with autosomal recessive deafness were included. In the 61 multiplex families, linkage was conducted for short tandem repeats (STRs) of the DFNB4. Selected individuals from the linked families and all of the 60 deaf individuals were subjected to sequencing of SLC26A4...
February 2015: International Journal of Audiology
Marzieh Mohseni, Asal Honarpour, Reza Mozafari, Behzad Davarnia, Hossein Najmabadi, Kimia Kahrizi
OBJECTIVE: Mutations in the SLC26A4 gene cause both Pendred syndrome and autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNB4 locus. The SLC26A4 mutations vary among different communities. Previous studies have shown that mutations in the SLC26A4 gene are responsible for the more common syndromic hereditary hearing loss in Iran. This study assesses the possibility of a founder mutation for Pendred syndrome in northwest Iran. MATERIALS AND METHODS: In this study, we performed comprehensive clinical and genetic evaluations in two unrelated families from northwest Iran with nine members affected by hearing loss (HL)...
November 2014: International Journal of Pediatric Otorhinolaryngology
Moo Kyun Park, Borum Sagong, Jong Dae Lee, Seung-Hyun Bae, Byeonghyeon Lee, Kwang Shik Choi, Yeon-Sik Choo, Kyu-Yup Lee, Un-Kyung Kim
Hearing loss (HL) is genetically heterogeneous and can be caused by mutations in multiple gene lesions. Pendred syndrome, caused by mutation of SLC26A4, is one of the common causes of recessive syndromic profound HL. Mitochondrial mutation is another rare cause of genetic HL, resulting in late onset sensorineural HL. Recently, we evaluated a young woman representing bilateral progressive moderate HL with delayed language development, along with her family. Hearing test, temporal bone computed tomography, and genetic evaluation of GJB2, MT-RNR1, SLC26A4 gene mutations were performed on each family member...
November 2014: International Journal of Pediatric Otorhinolaryngology
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