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, several cardiac irregularities association with sudden cardiac death at an early age |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Hutterite | |
| Gene: | LEMD2 |
| Base Change: | T>G, at nucleotide 38 |
| Amino Acid Change: | leu 13 --> arg |
| Last updated: | 2022-11-03 |
| 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 |
| AlKhaleefa A, Snider FL, Duff HJ, McGhee JD. (2020) Using the C. elegans lem-2 Gene to Reconstruct the Human LEMD2 Mutation Associated with Hutterite-type Cataract/Cardiomyopathy. MicroPubl Biol 10.17912/micropub.biology.000273. PubMed ID: 32666044 |
| 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) Hutteriteâ€type cataract maps to chromosome 6p21.32â€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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