Female Siblings with Pendred's Syndrome.

Nakagawa, Osamu; Ito, Seiki; Hanyu, Osamu; Yamazaki, Masatoshi; Urushiyama, Masaru; Tani, Nagayuki; Shibata, Akira

doi:10.2169/internalmedicine.33.369

Cited by 9 publications

(8 citation statements)

References 11 publications

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“…EVA is also known to be associated with syndromic hearing loss including Pendred syndrome (Johnsen et al 1986;Nakagawa et al 1994;Reardon and Trembath 1997) and branchiootorenal syndrome (Chen et al 1995). The relationship to Pendred syndrome has recently been paid much attention, because it is so common .…”

Section: Shin-ichi Usami · Satoko Abe · Mike D Weston Hideichi Shinkmentioning

confidence: 99%

Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations

et al. 1999

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Enlarged vestibular aqueduct (EVA), known as the most common form of inner ear abnormality, has recently been of particular genetic interest because this anomaly is inherited in a recessive manner. The locus for non-syndromic sensorineural hearing loss with EVA has been mapped to the same chromosomal region, 7q31, as the Pendred syndrome locus. In the present study, seven mutations in the PDS gene (PDS), the gene responsible for Pendred syndrome, have been found in families of non-syndromic sensorineural hearing loss with EVA. One family is homozygous, three families are compound heterozygotes, and two families are heterozygous but with no other mutation detected. The present results provide evidence that mutations in PDS cause both syndromic and non-syndromic hearing loss.

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Section: Shin-ichi Usami · Satoko Abe · Mike D Weston Hideichi Shinkmentioning

confidence: 99%

Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations

et al. 1999

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“…19,20,22,28 Magnetic resonance imaging in female siblings with Pendred syndrome showed bilateral enlargement of the vestibular aqueduct and Mondini dysplasia. 29 Recently, axial CT scanning of the temporal bones in 3 of 6 patients with Pendred syndrome showed a widened vestibular aqueduct and dysplasia of the cochlea. 28 These 3 adult patients with Pendred syndrome and a widened vestibular aqueduct were described as having profound congenital sensorineural hearing impairment.…”

Section: Commentmentioning

confidence: 99%

Progressive Sensorineural Hearing Loss and a Widened Vestibular Aqueduct in Pendred Syndrome

Cremers¹,

Bolder²,

Admiraal³

et al. 1998

Arch Otolaryngol Head Neck Surg

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Pendred syndrome is an autosomal recessive inherited disorder. Obligatory features are profound deafness in childhood and defective organic binding of iodine in the thyroid gland. Therefore, goiter is a common symptom. Hypoplasia of the cochlea is another feature. Recently, the gene for Pendred syndrome was identified. We describe a boy whose sensorineural hearing loss in both ears progressed rapidly from about 50 to 60 dB at the age of 3 years and 3 months to more than 100 dB at the age of 4 years and 4 months. This loss was preceded by a medical history of a progressive hearing loss. The progressive nature of the hearing loss motivated a search for the cause. Dysplasia of the cochlea and a widened vestibular aqueduct were found. The results of thyroid function tests were normal, but he had an elevated level of thyroglobulin. The diagnosis of Pendred syndrome was confirmed by the positive results of a potassium perchlorate test, indicating defective organic binding of iodine in the thyroid gland. It is possible that the widened vestibular aqueduct was responsible for the increase in the hearing impairment. Aside from the branchio-otorenal syndrome, Pendred syndrome is the only other known genetic disorder with a widened vestibular aqueduct. If a child has progressive sensorineural deafness and a widened vestibular aqueduct, it is important to consider a diagnosis of Pendred syndrome. A widened vestibular aqueduct may help to elucidate the pathophysiologic characteristics of hearing loss in these genetic types of deafness in childhood.

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“…Pendred syndrome comprises hearing loss (or deafness), goiter, and abnormal perchlorate discharge test; it is usually reported to be associated with the more severe Mondini anomaly [Illum et al, 1972;Andersen, 1974;Johnsen et al, 1989;Reardon and Trembath, 1997] and there are a few reports suggesting that EVA may occur in Pendred syndrome [Hvidberg-Hansen and Jorgensen, 1968;Schuknecht, 1980;Johnsen et al, 1986;Nakagawa et al, 1994]. A recent study shows that EVA with enlargement of the endolymphatic sac is commonly found in Pendred syndrome [Phelps et al, 1998].…”

Section: Discussionmentioning

confidence: 99%

Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the pendred gene

et al. 1999

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The most common form of inner ear abnormality, enlarged vestibular aqueduct (EVA), is of particular interest because it is associated with characteristic clinical findings, including fluctuating and sometimes progressive sensorineural hearing loss and disequilibrium symptoms. Although EVA has been reported to be inherited in a recessive manner, nothing else is known about the genetic basis of this hearing loss. Here we report on the localization of the gene responsible for sensorineural hearing loss associated with EVA to chromosomal region 7q31, with maximum multipoint LOD score of 3.647. The EVA candidate gene region lies in a 1.7-cM interval between the flanking markers D7S501 and D7S2425. Interestingly, this region overlaps the region containing the gene responsible for Pendred syndrome, called PDS, which was identified recently. However, the present subjects did not fulfill the criteria for Pendred syndrome. It is hypothesized that different mutations within the PDS gene may cause different phenotypes ranging from EVA to the Mondini deformity seen in Pendred syndrome.

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Female Siblings with Pendred's Syndrome.

Cited by 9 publications

References 11 publications

Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations

Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations

Progressive Sensorineural Hearing Loss and a Widened Vestibular Aqueduct in Pendred Syndrome

Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the pendred gene

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