Amish, Mennonite, and Hutterite
Genetic Disorder Database

Autosomal Recessive Cerebral Atrophy (ARCA)

Disorder
OMIM #: *606565  (Click to access OMIM database)
Disorder: Autosomal Recessive Cerebral Atrophy (ARCA) 
Also known as: ARCA syndrome 
Clinical
Phenotype:  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

 

Mutations
1   Amish  
Gene: TMPRSS4
Base Change: C>T, at nucleotide 995
Amino Acid Change: thr 332 --> met
Last updated: 2018-04-20 

References
Lahiry P, Racacho L, Wang J, Robinson JF, Gloor GB, Rupar CA, Siu VM, Bulman DE, Hegele RA. (2013) A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder. Orphanet J Rare Dis 8:126.
PubMed ID: 23957953 

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