Amish, Mennonite, and Hutterite
Genetic Disorder Database

Microcephaly and chorioretinopathy, autosomal recessive, 1 (MCCRP1)

Disorder
OMIM #: #251270  (Click to access OMIM database)
Disorder: Microcephaly and chorioretinopathy, autosomal recessive, 1 (MCCRP1) 
Also known as:  
Clinical
Phenotype: Congenital pachygyric microcephaly, global developmental delay, chorioretinopathy and retinal detachment  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
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
1   Old Order Mennonite  
Gene: TUBGCP6
Base Change: T>G, at nucleotide 5458
Amino Acid Change: term 182 --> gly
Last updated: 2015-04-23 

References
McKusick VA, Stauffer M, Knox DL, Clark DB. (1966) Chorioretinopathy with hereditary microcephaly. Arch Ophthalmol 75(5):597-600.
PubMed ID: 5936364 
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 

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