Gal A, Veske A, Jojart G, Grammatico B, Huber B, Gu S, del Porto G, Senyi K
Institut für Humangenetik, Universitäts-Krankenhaus Eppendorf, Hamburg, Germany.
Acta Ophthalmol Scand Suppl. 1996(219):13-6. doi: 10.1111/j.1600-0420.1996.tb00374.x.
Norrie-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 protein.
诺里-沃堡综合征（NWS）是一种罕见的X连锁疾病，其特征为不可避免的失明、偶尔出现的耳聋和精神障碍。我们在此描述了在表现出NWS经典临床表型的患者中发现的两个新突变，一个错义突变（C126S）和一个1碱基对插入突变（insT466/T467），以及一个复发性突变（M1V）。所有这三个突变都可能导致诺里蛋白发生显著的结构变化。
