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Genomics and Hearing Loss: Toward a New Standard of Care?
Published in Stavros Hatzopoulos, Andrea Ciorba, Mark Krumm, Advances in Audiology and Hearing Science, 2020
Transmembrane anion exchanger: The SLC26A4 gene encodes the pendrin protein, a transmembrane anion exchanger and is expressed in different tissues, including the thyroid, kidney and inner ear. Mutations in the pendrin gene are the second most frequent cause of autosomal recessive nonsyndromic hearing loss, accounting for up to 3.5% of cases (Hutchin et al., 2005). SLC26A4 also underlies Pendred syndrome, which is one of the most common autosomal recessive syndromic causes of hearing loss. In humans, enlargement of the vestibular aqueduct is present in almost all individuals with Pendred syndrome or DFNB4 deafness although an enlarged vestibular aqueduct can be present as an isolated finding along with sensorineural hearing loss. Mutations in SLC26A4 cause a spectrum of hearing loss, congenital or with a late onset, ranging from mild to profound, stable or progressive along the lifetime. Approximately half of the Pendred syndrome cases are caused by a mutation in SLC26A4.
Pendred Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Pendred syndrome (also known as goiter-deafness syndrome) is a relatively rare autosomal recessive disorder characterized by congenital sensorineural deafness, enlargement of the vestibular aqueduct (EVA), childhood-onset goiter/hypothyroidism, and incomplete iodide organization, in addition to increased risk of thyroid adenoma, thyroid cancer, and follicular thyroid hyperplasia (due to prolonged hypothyroidism and TSH stimulation).
P
Published in Anton Sebastian, A Dictionary of the History of Medicine, 2018
Pendred Syndrome Inherited disease due to a recessive trait, leading to a defect in binding of iodine by the thyroid gland. Described by Vaughan Pendred (1869–1946) in The Lancet in 1896. It is also associated with thyroid goiter and deaf-mutism.
Receptive language acquisition in a pediatric population with Pendred syndrome and non-syndromic enlarged vestibular aqueduct
Published in Acta Oto-Laryngologica, 2020
Kristianna Mey, Lone Percy-Smith, Maria Hallstrøm, Matilde Sandvej, Per Cayé-Thomasen
Hearing is essential to our perception and acquisition of spoken language and is thus pivotal for social interaction, learning and education. Inasmuch as linguistic and verbal communication skills are compromised, a hearing impairment (HI) in children may invoke frustration, isolation and decreased social well-being [1]. Pendred Syndrome (PS) is an autosomal recessive inherited condition associated with alterations in the SLC26A4 gene and is clinically characterized by a congenital or progressive hearing loss, enlarged vestibular aqueducts (EVA), with or without cochlear malformation, and in addition by a thyroid enlargement or goiter (OMIM#274600). Non-Syndromic Enlarged Vestibular Aqueduct (NSEVA), earlier known as DFNB4, is an autosomal recessive inherited hearing impairment also associated with EVA, but without goiter. Since the goiter is not always penetrant, or may not manifest before adolescence, the distinction between the two in childhood is difficult to make (OMIM#600791). The exact prevalence is unknown, however, it is estimated that approximately 10% of children born with hereditary congenital HI might be diagnosed with PS or NSEVA, which makes it the second most common cause of hereditary HI [2–4]. In Denmark, an estimated 4–5 children are born with PS or NSEVA every year; the symptoms (apart from hearing loss) may include severe fluctuations in hearing levels and episodes of vertigo, most likely due to the children’s enlarged vestibular aqueducts and enlarged endolymphatic sac's (EES) [5–7].
A pathogenic variant in SLC26A4 is associated with Pendred syndrome in a consanguineous Iranian family
Published in International Journal of Audiology, 2019
Azam Pourahmadiyan, Paria Alipour, Najmeh Fattahi, Mahbubeh Kasiri, Fateme Rezaeian, Afsaneh Taghipour-Sheshdeh, Javad Mohammadi-Asl, Mohammad Amin Tabatabaiefar, Morteza Hashemzadeh Chaleshtori
Hearing loss (HL) is the most common communication defect affecting about 360 million individuals worldwide (Organization 2009). The highest prevalence of HL is found in South Asia and sub-Saharan Africa (Stevens et al. 2013). Depending on the absence or presence of anomalies in other organs, such as the kidney, heart, or eyes, HL is categorised as nonsyndromic or syndromic. (Smith, Bale, and White 2005). Almost 70% of hereditary HL seems to be nonsyndromic (NSHL) (Van Camp, Willems, and Smith 1997). Syndromic hearing loss (SHL) accounts for the remaining 30% of genetic phenotypes in children (Gorlin, Toriello, and Cohen 1995). Some of the genes can cause both NSHL and SHL phenotypes (Friedman and Griffith 2003). For example, pathogenic variants in the SLC26A4 gene cause both Pendred Syndrome (PDS) (OMIM 274600), characterised by sensorineural HL and goitre (Coyle et al. 1996), and DFNB4 (OMIM 600791), autosomal recessive NSHL without goitre (Li et al. 1998).
The patient with metabolic alkalosis
Published in Acta Clinica Belgica, 2019
Valentine Gillion, Michel Jadoul, Olivier Devuyst, Jean-Michel Pochet
Recently, a protein called pendrin, a sodium-independent Cl-/HCO3- exchanger (Figure 1) localized on the apical membrane of type B intercalated cells in the distal nephron was identified [26]. This protein works with the neutral sodium-chloride cotransporter (NCC) to maintain sodium chloride balance and probably plays a key role in the secretion of bicarbonate to prevent the development of metabolic alkalosis. Studies in mutant mice show that pendrin and the NaCl cotransporter (SLC12A3) compensate for the loss of each other. Pendrin could also work with the sodium-dependent chloride/bicarbonate exchanger to mediate the reabsorption of NaCl. Patients with Pendred syndrome (SCL26A4; MIM # 274,600), a recessive disease resulting from mutations in pendrin, present developmental abnormalities of the cochlea with sensorineural hearing loss and diffuse thyroid enlargement or goiter. Pendrin is abundantly expressed in the thyroid and inner ear, with very low levels in the kidney. Patients with Pendred syndrome develop severe hypovolemia and metabolic alkalosis only when treated with thiazide diuretics.