RGD Reference Report - Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy. - Rat Genome Database

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Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy.

Authors: Wu, Y  Jiang, Y  Gao, Z  Wang, J  Yuan, Y  Xiong, H  Chang, X  Bao, X  Zhang, Y  Xiao, J  Wu, X 
Citation: Wu Y, etal., Eur J Neurol. 2009 Feb;16(2):240-5. Epub 2008 Dec 9.
RGD ID: 6482736
Pubmed: PMID:19138334   (View Abstract at PubMed)
DOI: DOI:10.1111/j.1468-1331.2008.02397.x   (Journal Full-text)

BACKGROUND AND PURPOSE: Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive neurodegenerative disorder. The most typical neuropathological finding of this disease is axonal swelling. Before the identification of associated mutations in PLA2G6-encoding iPLA(2)-VIA (cytosolic Ca(2+)-independent phospholipids A(2), group VIA) in 2006, neuropathological evidence was critical for definitive diagnosis. Only five genetic studies in INAD patients have been published worldwide, wherein 44 mutations were reported. To define the clinical and genetic characteristics of Chinese patients with INAD, 10 cases were analyzed. METHODS: For 10 cases of INAD, extensive clinical investigations, neuropathological examination, and mutation screening in PLA2G6 were performed. RESULTS: All cases displayed typical clinical features. Axonal swelling was found in skin or sural nerve biopsy specimens in three cases. Twelve PLA2G6 mutations were identified, nine of which were novel. These novel mutations include six missense, one abolishing the normal start codon, one nonsense, and one splice-site mutation. CONCLUSIONS: The nine novel mutations identified in this study suggest the uniqueness of the PLA2G6 mutation spectrum in Chinese patients, and greatly extends the spectrum of known mutations in INAD patients. In addition to pathological evidence, genetic analysis can inform definitive diagnosis of INAD.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
neuroaxonal dystrophy  IAGP 6482736DNA:missense mutations more ...RGD 
neuroaxonal dystrophy  ISOPLA2G6 (Homo sapiens)6482736; 6482736DNA:missense mutations more ...RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Blindness  IAGP 6482736DNA:missense mutations more ...RGD 
Cerebellar atrophy  IAGP 6482736DNA:missense mutations more ...RGD 
Dementia  IAGP 6482736DNA:missense mutations more ...RGD 
Psychomotor deterioration  IAGP 6482736DNA:missense mutations more ...RGD 
Tetraplegia  IAGP 6482736DNA:missense mutations more ...RGD 
Objects Annotated

Genes (Rattus norvegicus)
Pla2g6  (phospholipase A2 group VI)

Genes (Mus musculus)
Pla2g6  (phospholipase A2, group VI)

Genes (Homo sapiens)
PLA2G6  (phospholipase A2 group VI)


Additional Information