PARK2 ex3del (breakpoints not mapped) Mutation Details

(Table Legend)

Gene

PARK2

Name

(relative to nt1 in Reverse Complement of NT_025741.15 Region: 7901234..9288478)
(relative to nt1 in NG_008289.1)

Alias

ex3del (breakpoints not mapped)

Description

Genomic deletion containing exon 3 resulting in out-frame skipping of exon 3

Codon Change

Not Applicable

Details

Genomic

cDNA

Protein

Observed

Predicted

c.(172-?)_(412+?)del

p.N58QfsX39

Region

EX3

CDS

UBL

Notes

WARNING!!: This record groups all families with a PARK2 exon 3 deletion of which the breakpoints in intron 2 and intron 3 are undetermined.
These deletions in different families could all be of differing length and/or be independent events.

Phenotype

Mean of Mean Onset Ages: 29.2y - Mean of Mean Ages at Death: 66.7y

Frequency

83 Families

Function

No Functional data available

Citations

Lücking CB, Lancet 352: 1355-6, 1998
Hattori N, Ann Neurol 44: 935-41, 1998
Nisipeanu P, Neurology 53: 1602-4, 1999
Tassin J, Brain 123: 1112-21, 2000
Kobayashi T,, Parkinsonism Relat Disord 6: 129-131, 2000
Lu CS, Mov Disord 16: 164-6, 2001
van de Warrenburg BP, Neurology 56: 555-7, 2001
Hedrich K, Hum Mol Genet 10: 1649-56, 2001
Hedrich K, Neurology 58: 1239-46, 2002
Hoenicka J, Arch Neurol 59: 966-70, 2002
Nichols WC, J Med Genet 39: 489-92, 2002
Wu RM, Mov Disord 17: 670-5, 2002
Kobayashi T, J Neurol Sci 207: 11-7, 2003
Periquet M, Brain 126: 1271-8, 2003
Illarioshkin SN, Mov Disord 18: 914-9, 2003
Poorkaj P, Am J Med Genet A 129A: 44-50, 2004
Sasaki S, Neurology 63: 678-82, 2004
Wang T, Chin Med J 117: 1567-9, 2004
Capecci M, Mov Disord 19: 1450-2, 2004
Varrone A, Neurology 63: 2097-103, 2004
Poorkaj P, BMC Neurol 5: , 2005
Bertoli-Avella AM, Mov Disord 20: 424-31, 2005
Shyu WC, Parkinsonism Relat Disord 11: 173-80, 2005
De Rosa A, J Neurol 253: 275-9, 2006
Sun M, Arch Neurol 63: 826-32, 2006
Chung EJ, Arch Neurol 63: 1170-4, 2006
Shadrina MI, BMC Med Genet 8: , 2007
Scarciolla O, Mov Disord 22: 2274-8, 2007
Lesage S, J Med Genet 45: 43-6, 2008
Chung SJ, Mov Disord 23: 624-6, 2008
Moro E, Neurology 70: 1186-91, 2008
Aguiar P de C, Mov Disord 23: 1228-33, 2008
Guo JF, Mov Disord 23: 2074-9, 2008
Sironi F, Parkinsonism Relat Disord 14: 326-33, 2008
Lohmann E, Neurology 72: 110-6, 2009
Macedo MG, Mov Disord 24: 196-203, 2009
Barsottini OG, Arq Neuropsiquiatr 67: 7-11, 2009
Brüggemann N, Parkinsonism Relat Disord 15: 425-9, 2009
Keyser RJ, Neurogenetics Epub: , 2009
Guo JF, J Neurol Epub: , 2010

Citation Details

Added: June 25, 2009

ID: 147