PARK2 ex3-4del (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

ex3-4del (breakpoints not mapped)

Description

Genomic deletion containing exons 3 to 4 resulting in in-frame skipping of exon 3 to 4

Codon Change

Not Applicable

Details

Genomic

cDNA

Protein

Observed

Predicted

c.(172-?)_(534+?)del

p.N58_Q178del

Region

EX3-4

CDS

UBL

Notes

WARNING!!: This record groups all families with a PARK2 exon 3 to 4 deletion of which the breakpoints in intron 2 and intron 4 are undetermined.
These deletions in different families could all be of differing length and/or be independent events.

Phenotype

Mean of Mean Onset Ages: 33.3y

Frequency

43 Families

Function

No Functional data available

Citations

Hattori N, Ann Neurol 44: 935-41, 1998
Kobayashi T,, Parkinsonism Relat Disord 6: 129-131, 2000
Ujike H, Mov Disord 16: 111-3, 2001
Lücking CB, Neurology 57: 924-7, 2001
Hedrich K, Neurology 58: 1239-46, 2002
Kann M, Ann Neurol 51: 621-5, 2002
Nichols WC, J Med Genet 39: 489-92, 2002
Foroud T, Neurology 60: 796-801, 2003
Rawal N, Neurology 60: 1378-81, 2003
Periquet M, Brain 126: 1271-8, 2003
Wiley J, Mov Disord 19: 677-81, 2004
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
Clark LN, Arch Neurol 63: 548-52, 2006
Biswas A, Parkinsonism Relat Disord 12: 420-6, 2006
Shadrina MI, BMC Med Genet 8: , 2007
Lesage S, J Med Genet 45: 43-6, 2008
Simon-Sanchez J, Hum Mutat 29: 315-22, 2008
Moro E, Neurology 70: 1186-91, 2008
Wang Y, Arch Neurol 65: 467-74, 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
Bardien S, Parkinsonism Relat Disord 15: 116-21, 2009
Pankratz N, Neurology 73: 279-86, 2009
Keyser RJ, Neurogenetics Epub: , 2009
Sammler EM, Mov Disord 24: 2442-3, 2009

Citation Details

Added: June 25, 2009

ID: 148