Document Detail


PLA2G6 mutation underlies infantile neuroaxonal dystrophy.
MedLine Citation:
PMID:  17033970     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Infantile neuroaxonal dystrophy (INAD) is an autosomal recessive progressive neurodegenerative disease that presents within the first 2 years of life and culminates in death by age 10 years. Affected individuals from two unrelated Bedouin Israeli kindreds were studied. Brain imaging demonstrated diffuse cerebellar atrophy and abnormal iron deposition in the medial and lateral globus pallidum. Progressive white-matter disease and reduction of the N-acetyl aspartate : chromium ratio were evident on magnetic resonance spectroscopy, suggesting loss of myelination. The clinical and radiological diagnosis of INAD was verified by sural nerve biopsy. The disease gene was mapped to a 1.17-Mb locus on chromosome 22q13.1 (LOD score 4.7 at recombination fraction 0 for SNP rs139897), and an underlying mutation common to both affected families was identified in PLA2G6, the gene encoding phospholipase A2 group VI (cytosolic, calcium-independent). These findings highlight a role of phospholipase in neurodegenerative disorders.
Authors:
Shareef Khateeb; Hagit Flusser; Rivka Ofir; Ilan Shelef; Ginat Narkis; Gideon Vardi; Zamir Shorer; Rachel Levy; Aharon Galil; Khalil Elbedour; Ohad S Birk
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2006-09-19
Journal Detail:
Title:  American journal of human genetics     Volume:  79     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  2006 Nov 
Date Detail:
Created Date:  2006-10-11     Completed Date:  2006-12-04     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  942-8     Citation Subset:  IM    
Affiliation:
Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University, Israel.
Data Bank Information
Bank Name/Acc. No.:
OMIM/256600;  603604;  606157; RefSeq/NM_003560;  NM_153640;  NP_003551
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MeSH Terms
Descriptor/Qualifier:
Amino Acid Sequence
Brain / pathology
Child
Child, Preschool
Chromosome Mapping
Chromosomes, Human, Pair 22 / genetics
Consanguinity
Female
Genes, Recessive
Haplotypes
Humans
Infant
Israel
Lod Score
Magnetic Resonance Imaging
Male
Molecular Sequence Data
Mutation*
Neuroaxonal Dystrophies / enzymology*,  genetics*,  pathology
Pedigree
Phenotype
Phospholipases A / genetics*
Phospholipases A2
Sequence Deletion
Sequence Homology, Amino Acid
Chemical
Reg. No./Substance:
EC 3.1.1.-/Phospholipases A; EC 3.1.1.4/Phospholipases A2
Comments/Corrections

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