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Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis
Version of Record online: 30 JAN 2012
© 2012 John Wiley & Sons A/S. Published by Blackwell Publishing Ltd
Volume 82, Issue 6, pages 514–520, December 2012
How to Cite
Usami, S., Abe, S., Nishio, S., Sakurai, Y., Kojima, H., Tono, T. and Suzuki, N. (2012), Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis. Clinical Genetics, 82: 514–520. doi: 10.1111/j.1399-0004.2011.01831.x
- Issue online: 6 NOV 2012
- Version of Record online: 30 JAN 2012
- Received 9 August 2011, revised and accepted for publication 12 December 2011
The following Supporting information is available for this article:
Fig. S1. (a) Pedigree of family 1. Filled symbol represents the affected individual. (b) Sequence analysis of noggin (NOG). Arrow indicates a G to T change at nucleotide 551 in patient #991. This substitution causes codon 184 to change from TGC (cysteine: C) to TTC (phenylalanine: F).
Fig. S2. (a) Pedigree of family 2. Filled symbols represent the affected individuals. (b) Sequence analysis of noggin (NOG). Arrow indicates a T to A change at nucleotide 463 in patients #3925 and #3926. This substitution causes codon 155 to change from TGC (cysteine: C) to AGC (serine: S).
Fig. S3. (a) Pedigree of family 3. Filled symbols represent affected symptoms (conductive hearing impairment, hyperopia, and finger malformation. (b) Sequence analysis of noggin (NOG). Arrow indicates a C to A change at nucleotide 645 in patients #4106 and #4351. These two patients had a heterozygous C215X mutation. This nonsense mutation (C215X) leads to a truncated protein.
Additional Supporting information may be found in the online version of this article.
|CGE_1831_sm_fs1.pdf||63K||Supporting info item|
|CGE_1831_sm_fs2.pdf||60K||Supporting info item|
|CGE_1831_sm_fs3.pdf||76K||Supporting info item|
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