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Norrie‐Warburg syndrome: Two novel mutations in patients with classical clinical phenotype

 

作者: Andreas Gal,   Andres Veske,   György Jojart,   Barbara Grammatico,   Bernd Huber,   Sumin Gu,   Giuseppe Porto,   Katalin Senyi,  

 

期刊: Acta Ophthalmologica Scandinavica  （WILEY Available online 1996）
卷期: Volume 74, issue S219  

页码: 13-16

 

ISSN:1395-3907

 

年代: 1996

 

DOI:10.1111/j.1600-0420.1996.tb00374.x

 

出版商: Blackwell Publishing Ltd

 

关键词: Norrie syndrome;gene mutations;blindness;X chromosome;initiation codon

 

数据来源: WILEY

 

摘要:

ABSTRACTNorrie‐Warburg syndrome (NWS) is a rare X‐linked disorder characterized by blindness, which is invariable, deafness and mental disturbances, which are present occasionally. We describe here two novel mutations, a missense mutation (C126S) and a 1‐base pair insertion (insT466/T467), together with a recurrent mutation (M1V), found in patients presenting with the classical clinical phenotype of NWS. All three mutations are likely to result in prominent structural changes of the norrin pr

 

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