SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.

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Publication year
2008Source
Human Mutation, 29, 4, (2008), pp. 565ISSN
Publication type
Article / Letter to editor

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Organization
Otorhinolaryngology
Journal title
Human Mutation
Volume
vol. 29
Issue
iss. 4
Page start
p. 565
Page end
p. 565
Subject
DCN 1: Perception and Action; DCN 2: Functional Neurogenomics; UMCN 3.3: Neurosensory disordersAbstract
Branchio-oto-renal syndrome (BOR) is a clinically heterogeneous autosomal dominant form of syndromic hearing loss characterized by variable hearing impairment, malformations of the pinnae, the presence of branchial arch remnants, and various renal abnormalities. Both EYA1 and SIX1 are expressed in developing otic, branchial and renal tissue. Consistent with this expression pattern, mutations in both genes cause BOR syndrome. Mutations in EYA1 are found in approximately 40% of patients with the BOR phenotype, however, the role of SIX1 is much lower. To date only three different SIX1 mutations have been described in BOR patients. The current screen of 247 BOR families detected five novel SIX1 mutations (c.50T>A, c.218A>C, c.317T>G, c.329G>A, c.334C>T) and one previously reported mutation (c.328C>T) seen in 5 unrelated families. All mutations are within the protein-binding Six domain. Phenotypic variability was high in these BOR families. Seven of the eight known SIX1 mutations are missense and the one in frame deletion is predicted to be functionally similar. The wide phenotypic variability precludes making genotype-phenotype correlations at this time.
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- Academic publications [227881]
- Electronic publications [107344]
- Faculty of Medical Sciences [86219]
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