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A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms
Author(s) -
Lev Dorit,
Weigl Yuval,
Hasan Mariana,
Gak Eva,
Davidovich Michael,
Vinkler Chana,
LeshinskySilver Esther,
LermanSagie Tally,
Watemberg Nathan
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31531
Subject(s) - missense mutation , hypsarrhythmia , pediatrics , medicine , epilepsy , blindness , mutation , disease , west syndrome , genetics , gene , biology , psychiatry , optometry
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.