PMID- 17033970
OWN - NLM
STAT- MEDLINE
DCOM- 20061204
LR  - 20200824
IS  - 0002-9297 (Print)
IS  - 1537-6605 (Electronic)
IS  - 0002-9297 (Linking)
VI  - 79
IP  - 5
DP  - 2006 Nov
TI  - PLA2G6 mutation underlies infantile neuroaxonal dystrophy.
PG  - 942-8
AB  - 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.
FAU - Khateeb, Shareef
AU  - Khateeb S
AD  - Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in 
      the Negev and Faculty of Health Sciences, Ben-Gurion University, Israel.
FAU - Flusser, Hagit
AU  - Flusser H
FAU - Ofir, Rivka
AU  - Ofir R
FAU - Shelef, Ilan
AU  - Shelef I
FAU - Narkis, Ginat
AU  - Narkis G
FAU - Vardi, Gideon
AU  - Vardi G
FAU - Shorer, Zamir
AU  - Shorer Z
FAU - Levy, Rachel
AU  - Levy R
FAU - Galil, Aharon
AU  - Galil A
FAU - Elbedour, Khalil
AU  - Elbedour K
FAU - Birk, Ohad S
AU  - Birk OS
LA  - eng
SI  - OMIM/256600
SI  - OMIM/603604
SI  - OMIM/606157
SI  - RefSeq/NM_003560
SI  - RefSeq/NM_153640
SI  - RefSeq/NP_003551
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20060919
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - EC 3.1.1.32 (Phospholipases A)
RN  - EC 3.1.1.4 (Phospholipases A2)
SB  - IM
MH  - Amino Acid Sequence
MH  - Brain/pathology
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 22/genetics
MH  - Consanguinity
MH  - Female
MH  - Genes, Recessive
MH  - Haplotypes
MH  - Humans
MH  - Infant
MH  - Israel
MH  - Lod Score
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Neuroaxonal Dystrophies/*enzymology/*genetics/pathology
MH  - Pedigree
MH  - Phenotype
MH  - Phospholipases A/*genetics
MH  - Phospholipases A2
MH  - Sequence Deletion
MH  - Sequence Homology, Amino Acid
PMC - PMC1698558
EDAT- 2006/10/13 09:00
MHDA- 2006/12/09 09:00
PMCR- 2007/05/01
CRDT- 2006/10/13 09:00
PHST- 2006/06/30 00:00 [received]
PHST- 2006/08/16 00:00 [accepted]
PHST- 2006/10/13 09:00 [pubmed]
PHST- 2006/12/09 09:00 [medline]
PHST- 2006/10/13 09:00 [entrez]
PHST- 2007/05/01 00:00 [pmc-release]
AID - S0002-9297(07)60837-4 [pii]
AID - 43936 [pii]
AID - 10.1086/508572 [doi]
PST - ppublish
SO  - Am J Hum Genet. 2006 Nov;79(5):942-8. doi: 10.1086/508572. Epub 2006 Sep 19.