Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

Everett, Lorraine A.; Gläser, Benjamin; Beck, John C.; Idol, Jacquelyn R.; Buchs, Andreas; Heyman, Ma'ayan; Adawi, Faiad; Hazani, Elizur; Nassir, E.; Baxevanis, Andreas D.; Sheffield, Val C.; Green, Eric D.

doi:10.1038/ng1297-411

Cited by 1,056 publications

(889 citation statements)

References 66 publications

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“…KCNJ10 is also implicated in SNHL in autosomal recessive deafness‐4 (DFNB4) with enlarged vestibular aqueduct (EVA) [MIM 600791], and in autosomal recessive Pendred syndrome [MIM 274600]. In Pendred syndrome, SLC26A4 [MIM 605646] mutations account for the majority of cases (Everett et al, 1997). The dysfunction of its protein, PENDRIN, results in loss of KCNJ10 expression in the melanocytes of the stria vascularis and subsequent loss of the endocochlear potential (Wangemann et al, 2004; Ito et al, 2014).…”

Section: Discussionmentioning

confidence: 99%

Development of the stria vascularis and potassium regulation in the human fetal cochlea: Insights into hereditary sensorineural hearing loss

Locher

Groot

Iperen

et al. 2015

Developmental Neurobiology

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Sensorineural hearing loss (SNHL) is one of the most common congenital disorders in humans, afflicting one in every thousand newborns. The majority is of heritable origin and can be divided in syndromic and nonsyndromic forms. Knowledge of the expression profile of affected genes in the human fetal cochlea is limited, and as many of the gene mutations causing SNHL likely affect the stria vascularis or cochlear potassium homeostasis (both essential to hearing), a better insight into the embryological development of this organ is needed to understand SNHL etiologies. We present an investigation on the development of the stria vascularis in the human fetal cochlea between 9 and 18 weeks of gestation (W9–W18) and show the cochlear expression dynamics of key potassium‐regulating proteins. At W12, MITF+/SOX10+/KIT+ neural‐crest‐derived melanocytes migrated into the cochlea and penetrated the basement membrane of the lateral wall epithelium, developing into the intermediate cells of the stria vascularis. These melanocytes tightly integrated with Na+/K+‐ATPase‐positive marginal cells, which started to express KCNQ1 in their apical membrane at W16. At W18, KCNJ10 and gap junction proteins GJB2/CX26 and GJB6/CX30 were expressed in the cells in the outer sulcus, but not in the spiral ligament. Finally, we investigated GJA1/CX43 and GJE1/CX23 expression, and suggest that GJE1 presents a potential new SNHL associated locus. Our study helps to better understand human cochlear development, provides more insight into multiple forms of hereditary SNHL, and suggests that human hearing does not commence before the third trimester of pregnancy. © 2015 Wiley Periodicals, Inc. Develop Neurobiol 75: 1219–1240, 2015

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Section: Discussionmentioning

confidence: 99%

Development of the stria vascularis and potassium regulation in the human fetal cochlea: Insights into hereditary sensorineural hearing loss

Locher

Groot

Iperen

et al. 2015

Developmental Neurobiology

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“…55 Variations in this gene, as a second prevalent cause of HL, can contribute to both syndromic (Pendred syndrome, PS) and ARNSHL (DFNB4). 56,57 PS is associated with severe sensorineural HL and thyroid symptoms ranging from small changes in thyroid size to a large extent goiter. An enlarged vestibular aqueduct determined by a computed tomographic image is also present in PS patients.…”

Section: Genetic Causes Of Nshl In Iran N Mahdieh Et Almentioning

confidence: 99%

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations

et al. 2010

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Hearing loss (HL) is the most prevalent sensory defect affecting 1 in 500 neonates. Genetic factors are involved in half of the cases. The extreme heterogeneity of HL makes it difficult to analyze and determine the accurate genetic causes of the impairment. Up to now, 10 genes, namely, GJB2, GJB6, SLC26A4, TECTA, PJVK, Col11A2, Myo15A, TMC1, RDX and microRNA (miR-183), have been studied in an Iranian population. The prevalence of HL in Iran was estimated to be 2-3 times higher than that in other parts of the world. Here, the most common bases of congenital nonsyndromic hearing loss (NSHL) are discussed. We reviewed GJB2, GJB6 (large deletion), TECTA, SLC26A4 and PEJVK mutations, and studied their frequencies and distributions in different ethnic groups in 1934, 500, 121, 80 and 34 unrelated families throughout Iran, respectively. GJB2 mutation was the most common factor causing NSHL, with a mean frequency of 18.17% in the Iranian population. The importance of Iran's geographical location in the migration pathway from west to east through the silk route was also highlighted. SLC26A4 and TECTA mutations were the second and third main reasons of HL and accounted for up to 10 and 4% of prelingual HL in Iran, respectively. Mutations in GJB2, SLC26, TECTA and PJVK genes have an important role in HL in Iran and a screening test should be generated for better intervention and diagnosis programs.

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“…Another example of a gene that regulates fluid homeostasis is Pendrin (Pds), which is responsible for causing Pendred syndrome as well as a nonsyndromic form of deafness in humans (Everett et al 1997;Li et al 1998). Patients with Pendred syndrome have sensorineural deafness and goiter.…”

Section: Genes That Affect Fluid Homeostasismentioning

confidence: 99%

Molecular Genetics of Vestibular Organ Development

Chang¹,

Cole²,

Cantos³

et al. 2004

The Vestibular System

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Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

Cited by 1,056 publications

References 66 publications

Development of the stria vascularis and potassium regulation in the human fetal cochlea: Insights into hereditary sensorineural hearing loss

Development of the stria vascularis and potassium regulation in the human fetal cochlea: Insights into hereditary sensorineural hearing loss

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations

Molecular Genetics of Vestibular Organ Development

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