Amish, Mennonite, and Hutterite
Genetic Disorder Database

Posterior column ataxia with retinitis pigmentosa

Disorder
OMIM #: #609033  (Click to access OMIM database)
Disorder: Posterior column ataxia with retinitis pigmentosa 
Also known as: PCARP
AXPC1 
Clinical
Phenotype: Impaired propioception, retinitis pigmentosa  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

 

Mutations
1   Old Order Mennonite  
Gene: FLVCR1
Base Change: A>G, at nucleotide 371
Amino Acid Change: gln 124 --> arg
ReferencesPuffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA. (2012) Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases. PLoS One 7(1):e28936.
PubMed ID: 22279524
Rajadhyaksha AM, Elemento O, Puffenberger EG, Schierberl KC, Xiang JZ, Putorti ML, Berciano J, Poulin C, Brais B, Michaelides M, Weleber RG, Higgins JJ. (2010) Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. Am J Hum Genet Nov 12;87(5):643-54.
PubMed ID: 21070897
Yanatori I, Yasui Y, Miura K, Kishi F. (2012) Mutations of FLVCR1 in posterior column ataxia and retinitis pigmentosa result in the loss of heme export activity. Blood Cells Mol Dis Jun 15;49(1):60-6.
PubMed ID: 2248357

2   Old Order Mennonite  
Gene: FLVCR1
Base Change: A>G, at nucleotide 361
Amino Acid Change: asn 121 --> asp
Last updated: 2019-01-23 

References
Higgins JJ, Kluetzman K, Berciano J, Combarros O, Loveless JM. (2000) Posterior column ataxia and retinitis pigmentosa: a distinct clinical and genetic disorder. Mov Disord May;15(3):575-8.
PubMed ID: 10830426 
Higgins JJ, Morton DH, Loveless JM. (1999) Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32. Neurology Jan 1;52(1):146-50.
PubMed ID: 9921862 
Higgins JJ, Morton DH, Patronas N, Nee LE. (1997) An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa. Neurology Dec;49(6):1717-20.
PubMed ID: 9409377 
Lee J, Scanga HL, Dansingani KK, Taubenslag KJ, Zlotcavitch L, Chauhan BK, Sylvester CL, Morton DH, Nischal KK. (2018) Clinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation. Ophthalmic Genet Dec;39(6):735-740.
PubMed ID: 30444160 
Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA. (2012) Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases. PLoS One 7(1):e28936.
PubMed ID: 22279524 
Rajadhyaksha AM, Elemento O, Puffenberger EG, Schierberl KC, Xiang JZ, Putorti ML, Berciano J, Poulin C, Brais B, Michaelides M, Weleber RG, Higgins JJ. (2010) Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. Am J Hum Genet Nov 12;87(5):643-54.
PubMed ID: 21070897 
Yanatori I, Yasui Y, Miura K, Kishi F. (2012) Mutations of FLVCR1 in posterior column ataxia and retinitis pigmentosa result in the loss of heme export activity. Blood Cells Mol Dis Jun 15;49(1):60-6.
PubMed ID: 2248357 

Back