Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome [PDF]
Nature Communications, 2020 While biallelic mutations of the SLC26A4 gene cause non-syndromic hearing loss with enlarged vestibular aqueducts or Pendred syndrome, a considerable number of patients carry mono-allelic mutations.
Mengnan Li +21 more
doaj +5 more sources
Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome [PDF]
Molecular MedicineBackground Pathogenic variants in the SLC26A4 gene, encoding for Cl−/HCO3 − and I− anion transporter pendrin, are associated with non-syndromic hearing loss with enlarged vestibular aqueduct (NSEVA) and Pendred syndrome (PDS). In the Caucasian population,
Marek Sklenar +9 more
doaj +5 more sources
Thyroid and breast carcinomas in a patient with Pendred syndrome: a case report and literature review [PDF]
Frontiers in OncologyBackgroundGoiter in the course of Pendred syndrome may in rare cases be associated with thyroid cancer (about 1% of all Pendred syndrome patients).
Hongji Wu +7 more
doaj +5 more sources
Transcriptomic Analysis Reveals an Altered Hcy Metabolism in the Stria Vascularis of the Pendred Syndrome Mouse Model [PDF]
Neural Plasticity, 2021 Purpose. Slc26a4-/- mice exhibit severer defects in the development of the cochlea and develop deafness, while the underlying mechanisms responsible for these effects remain unclear.
Wenyue Xue +7 more
doaj +5 more sources
Reclassification of Whole Exome Sequencing-derived Genetic Variants in Pendred Syndrome with ACMG/AMP Standards [PDF]
Global Medical Genetics, 2021 Whole exome sequencing (WES) opens up an unbiased testing approach for genetic diagnosis of rare disorders compared with single-gene and multigene panel testing.
Kok-Siong Poon, Karen Mei-Ling Tan
doaj +4 more sources
Compound Heterozygosity for Two Novel Mutations in a Large Iranian Pedigree with Pendred Syndrome [PDF]
Clinical and Experimental Otorhinolaryngology, 2013 ObjectivesThe aim of this study was to detect the genetic cause of deafness in a large Iranian family. Due to the importance of SLC26A4 in causing hearing loss, information about the gene mutations can be beneficial in molecular detection and management ...
Nasrin Yazdanpanahi +7 more
doaj +7 more sources
Case report: A case of SLC26A4 mutations causing pendred syndrome and non-cystic fibrosis bronchiectasis [PDF]
Frontiers in Pediatrics, 2023 The SLC26A4 gene encodes the transmembrane protein pendrin, which is involved in the ion transport of chloride (Cl-), iodide (I-) or bicarbonate (HCO3-).
Kang Zhu, Yingkang Jin
doaj +3 more sources
Pendred Syndrome, or Not Pendred Syndrome? That Is the Question. [PDF]
Genes (Basel), 2021 Pendred syndrome (PDS) is the most common form of syndromic Hearing Loss (HL), characterized by sensorineural HL, inner ear malformations, and goiter, with or without hypothyroidism.
Tesolin P +11 more
europepmc +6 more sources
Case of delayed presentation of Pendred syndrome with a large goitre causing a life-threatening airway obstruction. [PDF]
BMJ Case Rep, 2022 © BMJ Publishing Group Limited 2022. No commercial reuse. See rights and permissions. Published by BMJ. DESCRIPTION A woman in her 70s with a history of severe bilateral hearing loss since childhood and impaired language acquisition was brought to the ...
Sasaki T, Onaga R, Koshu R.
europepmc +4 more sources
Maternal UPD of chromosome 7 in a patient with Silver-Russell syndrome and Pendred syndrome. [PDF]
J Clin Lab Anal, 2020 Silver‐Russell syndrome (SRS) is a heterogeneous imprinting disorder featuring severe intrauterine and postnatal growth retardation and dysmorphic features. Pendred syndrome (PDS) is an autosomal recessive disorder caused by mutations in the SLC26A4 gene
Zhang C +11 more
europepmc +4 more sources