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

A. Gal; A. Veske; G. Jojart; B. Grammatico; B. Huber; S. Gu; G. Del Porto; K. Senyi

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

A. Gal, A. Veske, G. Jojart, B. Grammatico, B. Huber, S. Gu, G. Del Porto, K. Senyi

Research output: Contribution to journal › Article

Abstract

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.

Original language	English (US)
Pages (from-to)	13-16
Number of pages	4
Journal	Acta Ophthalmologica Scandinavica, Supplement
Volume	74
Issue number	219
State	Published - Jan 1 1996
Externally published	Yes

Keywords

Blindness
Gene mutations
Initiation codon
Norrie syndrome
X chromosome

ASJC Scopus subject areas

Ophthalmology

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title = "Norrie-Warburg syndrome: Two novel mutations in patients with classical clinical phenotype",

abstract = "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.",

keywords = "Blindness, Gene mutations, Initiation codon, Norrie syndrome, X chromosome",

author = "A. Gal and A. Veske and G. Jojart and B. Grammatico and B. Huber and S. Gu and {Del Porto}, G. and K. Senyi",

year = "1996",

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T2 - Two novel mutations in patients with classical clinical phenotype

AU - Gal, A.

AU - Veske, A.

AU - Jojart, G.

AU - Grammatico, B.

AU - Huber, B.

AU - Gu, S.

AU - Del Porto, G.

AU - Senyi, K.

PY - 1996/1/1

Y1 - 1996/1/1

N2 - 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.

AB - 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.

KW - Blindness

KW - Gene mutations

KW - Initiation codon

KW - Norrie syndrome

KW - X chromosome

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