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, developmental delay, motor delay, hyperreflexia, spastic paraparesis, dysarthria, optic atrophy |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | MTPAP |
| Base Change: | A>G, at nucleotide 1432 |
| Amino Acid Change: | asn 478 --> asp |
| Last updated: | 2022-11-13 |
| 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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