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

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 ret...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2007-05, Vol.143A (9), p.921-924
Main Authors: Lev, Dorit, Weigl, Yuval, Hasan, Mariana, Gak, Eva, Davidovich, Michael, Vinkler, Chana, Leshinsky-Silver, Esther, Lerman-Sagie, Tally, Watemberg, Nathan
Format: Article
Language:English
Subjects:
Base Sequence
Biological and medical sciences
Blindness - congenital
Blindness - genetics
DNA Mutational Analysis
Eye Proteins - genetics
Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy
Humans
hypsarrhythmia
Infant
infantile spasms
Male
Malformations of the eye
Medical genetics
Medical sciences
Molecular Sequence Data
Mutation, Missense
NDP
Nerve Tissue Proteins - genetics
Nervous system (semeiology, syndromes)
Nervous System Diseases - genetics
Neurology
Norrie disease
novel mutation
Ophthalmology
Retinopathies
Spasms, Infantile - genetics
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Summary: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. © 2007 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.31531