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

Abstract

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.

Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese

“…3 However, the recent identification of the PDS gene 4 as being responsible for Pendred syndrome enables us to perform molecular evaluation of this syndrome. Simultaneously, the PDS gene has also been reported to cause 'nonsyndromic hearing loss with enlarged vestibular aqueduct (EVA)', 5 suggesting that the PDS gene may cover a wider range of diseases from typical Pendred syndrome to nonsyndromic hearing loss with EVA. Therefore, molecular genetic testing is becoming more important to diagnose this category of disease caused by the PDS gene.…”

Association of SLC26A4 muations with clinical features and thyroid function in deaf infants with enlarged vestibular aqueduct

“…Mutations of the SLC26A4 (PDS) gene can cause SNHL with goiter (Pendred syndrome) or NSRD with EVA (Everett et al 1997;Usami et al 1999). They have also been reported to be associated with a wide range of other phenotypes.…”

“…It is an autosomal-recessive disorder caused by mutation in the SLC26A4 (PDS) gene (Everett et al 1997). In addition to Pendred syndrome, mutations of this gene are also responsible for non-syndromic recessive deafness (NSRD) with enlarged vestibular aqueduct (EVA), or Mondini dysplasia (Usami et al 1999). Overall, SLC26A4 mutations may account for between 5 and 10% of patients with prelingual hearing loss (Gorlin 1995).…”

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

“…61 The IVS7-2A4G and H732R mutations are more prevalent in East Asia. [62][63][64][65] Thus, ethnic specificity of mutations in this gene is also observed and it should be considered in screening programs in Iranian subpopulations. On the basis of preliminary data, SLC26A4 mutations are responsible for up to 10% of prelingual HL.…”