Amish, Mennonite, and Hutterite
Genetic Disorder Database

Pierson syndrome

Disorder
OMIM #: #609049  (Click to access OMIM database)
Disorder: Pierson syndrome 
Also known as: Nephrotic Syndrome, Type 5, with ocular abnormalities 
Clinical
Phenotype: Chronic kidney disease, bilateral chorioretinal pigmentary changes, with or without retinal detachments, but without microcoria or neurodevelopmental deficits 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Old Order Mennonite  
Gene: LAMB2
Base Change: A>G, at nucleotide 440
Amino Acid Change: his 147 --> arg
Last updated: 2020-04-07 

References
Mohney BG, Pulido JS, Lindor NM, Hogan MC, Consugar MB, Peters J, Pankratz VS, Nasr SH, Smith SJ, Gloor J, Kubly V, Spencer D, Nielson R, Puffenberger EG, Strauss KA, Morton DH, Eldahdah L, Harris PC. (2011) A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. Ophthalmology 6:1137-44.
PubMed ID: 3223484 

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