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) 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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