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Case Reports
. 2011 Sep-Oct;54(5):e484-8.
doi: 10.1016/j.ejmg.2011.06.001. Epub 2011 Jun 15.

A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans

Mohamed Ali Mosrati  1 , Boutheina Hammami, Imen Ben Rebeh, Leila Ayadi, Leila Dhouib, Khaireddine Ben Mahfoudh, Bochra Hakim, Ilhem Charfeddine, Jameleddine Mnif, Abdelmonem Ghorbel, Saber Masmoudi
Affiliations
Case Reports

A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans

Mohamed Ali Mosrati et al. Eur J Med Genet. 2011 Sep-Oct.

Abstract

Branchio-oto-renal (BOR) and Branchio-otic (BO) syndromes are dominant disorders characterized by variable hearing impairment (HI) and branchial defects. BOR includes additional kidney malformations. BO/BOR syndromes are genetically heterogeneous and caused by mutations in EYA1 and SIX1 genes. Mutation in SIX1 is responsible also for DFNA23, a locus for non-syndromic HI. Strikingly, the severity of the phenotype did not seem to correlate with the type of SIX1 mutation. Herein, we identified a novel mutation in SIX1 (p.E125K) in a Tunisian family with variable HI and preauricular pits. This mutation is located at the same position as the mutation identified in the Catwhesel (Cwe) mouse. No renal and branchial defects were observed in our family nor in Cwe/+ mice. A homology model revealed that the replacement of the Glutamate by a Lysine alters the electrostatic potential surface propriety which may affect the DNA-binding activity.

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