Amish, Mennonite, and Hutterite
Genetic Disorder Database

Spastic Ataxia 4, mtPAP deficiency  

Disorder
OMIM #: #613672  (Click to access OMIM database)
Disorder: Spastic Ataxia 4, mtPAP deficiency   
Also known as:  
Clinical
Phenotype: Spastic ataxia, mental retardation, psychomotor delay, spastic paraparesis, dysarthria, optic atrophy, cognitive impairment, learning difficulties 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: MTPAP
Base Change: A>G, at nucleotide 1432
Amino Acid Change: asn 478 --> asp
Last updated: 2018-12-14 

References
Crosby AH, Patel H, Chioza BA, Proukakis C, Gurtz K, Patton MA, Sharifi R, Harlalka G, Simpson MA, Dick K, Reed JA, Al-Memar A, Chrzanowska-Lightowlers ZM, Cross HE, Lightowlers RN. (2010) Defective mitochondrial mRNA maturation is associated with spastic ataxia. Am J Hum Genet 87:655-60.
PubMed ID: 20970105 
Martin NT, Nakamura K, Paila U, Woo J, Brown C, Wright JA, Teraoka SN, Haghayegh S, McCurdy D, Schneider M, Hu H, Quinlan AR, Gatti RA, Concannon P. (2014) Homozygous mutation of MTPAP causes cellular radiosensitivity and persistent DNA double-strand breaks. Cell Death Dis Mar 20;5:e1130.
PubMed ID: 24651433 
Wilson WC, Hornig-Do HT, Bruni F, Chang JH, Jourdain AA, Martinou JC, Falkenberg M, Spåhr H, Larsson NG, Lewis RJ, Hewitt L, Baslé A, Cross HE, Tong L, Lebel RR, Crosby AH, Chrzanowska-Lightowlers ZM, Lightowlers RN. (2014) A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression. Hum Mol Genet Dec 1;23(23):6345-55.
PubMed ID: 25008111 

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