Amish, Mennonite, and Hutterite
Genetic Disorder Database

Cataract, Hutterite-type

Disorder
OMIM #: #212500  (Click to access OMIM database)
Disorder: Cataract, Hutterite-type 
Also known as: Cataract, Juvenile, Hutterite type
Cataract 46, juvenile-onset (CTRCT46) 
Clinical
Phenotype: Juvenile cataracts; association with sudden cardiac death at an early age 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Hutterite  
Gene: LEMD2
Base Change: T>G, at nucleotide 38
Amino Acid Change: leu 13 --> arg
Last updated: 2019-12-24 

References
Abdelfatah N, Chen R, Duff HJ, Seifer CM, Buffo I, Huculak C, Clarke S, Clegg R, Jassal DS, Gordon PMK, Ober C; Care4Rare Canada Consortium, Frosk P, Gerull B. (2019) Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2. JACC Basic Transl Sci Apr 29;4(2):204-221.
PubMed ID: 31061923 
Boone PM, Yuan B, Gu S, Ma Z, Gambin T, Gonzaga-Jauregui C, Jain M, Murdock TJ, White JJ, Jhangiani SN, Walker K, Wang Q, Muzny DM, Gibbs RA, Hejtmancik JF, Lupski JR, Posey JE, Lewis RA. (2015) Hutterite‐type cataract maps to chromosome 6p21.32‐p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. Mol Genet Genomic Med Nov 14;4(1):77-94.
PubMed ID: 26788539 
Pearce WG, Mackay JA, Holmes TM, Morgan K, Fowlow SB, Shokeir MH, Lowry RB. (1987) Autosomal recessive juvenile cataract in Hutterites. Ophthalmic Paediatr Genet Jun;8(2):119-24.
PubMed ID: 3658338 
Shokeir MH and Lowry RB. (1985) Juvenile cataract in Hutterites. Am J Med Genet 22(3): 495-500.
PubMed ID: 4061486 

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