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. 2003 Dec;22(6):499.
doi: 10.1002/humu.9204.

NDP gene mutations in 14 French families with Norrie disease

Ghislaine Royer  1 , Sylvain Hanein, Valérie Raclin, Nadine Gigarel, Jean-Michel Rozet, Arnold Munnich, Julie Steffann, Jean-Louis Dufier, Josseline Kaplan, Jean-Paul Bonnefont
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NDP gene mutations in 14 French families with Norrie disease (VSports最新版本)

Ghislaine Royer et al. Hum Mutat. 2003 Dec.

Abstract

Norrie disease is a rare X-inked recessive condition characterized by congenital blindness and occasionally deafness and mental retardation in males. This disease has been ascribed to mutations in the NDP gene on chromosome Xp11. 1. Previous investigations of the NDP gene have identified largely sixty disease-causing sequence variants. Here, we report on ten different NDP gene allelic variants in fourteen of a series of 21 families fulfilling inclusion criteria. Two alterations were intragenic deletions and eight were nucleotide substitutions or splicing variants, six of them being hitherto unreported, namely c. 112C>T (p. Arg38Cys), c. 129C>G (p. His43Gln), c. 133G>A (p. Val45Met), c. 268C>T (p. Arg90Cys), c. 382T>C (p VSports手机版. Cys128Arg), c. 23479-1G>C (unknown). No NDP gene sequence variant was found in seven of the 21 families. This observation raises the issue of misdiagnosis, phenocopies, or existence of other X-linked or autosomal genes, the mutations of which would mimic the Norrie disease phenotype. .

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