A novel missense mutation in the NDP gene in a child with norrie disease and severe neurological involvement including infantile spasms

Dorit Lev*, Yuval Weigl, Mariana Hasan, Eva Gak, Michael Davidovich, Chana Vinkler, Esther Leshinsky-Silver, Tally Lerman-Sagie, Nathan Watemberg

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Norrie disease (ND) is a rare X-linked recessive disorder characterized by congenital blindness and in some cases, mental retardation and deafness. Other neurological complications, particularly epilepsy, are rare. We report on a novel mutation identified in a patient with ND and profound mental retardation. The patient was diagnosed at the age of 6 months due to congenital blindness. At the age of 8 months he developed infantile spasms, which were diagnosed at 11 months as his EEG demonstrated hypsarrhythmia. Mutation analysis of the ND gene (NDP) of the affected child and his mother revealed a novel missense mutation at position c.134T > A resulting in amino acid change at codon V45E. To the best of our knowledge, such severe neurological involvement has not been previously reported in ND patients. The severity of the phenotype may suggest the functional importance of this site of the NDP gene.

Original languageEnglish
Pages (from-to)921-924
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume143
Issue number9
DOIs
StatePublished - 1 May 2007
Externally publishedYes

Keywords

  • Hypsarrhythmia
  • Infantile spasms
  • NDP
  • Norrie disease
  • Novel mutation

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