Intellectual developmental disorder, autosomal recessive 14
| Disorder | |
|---|---|
| OMIM #: | #614020 (Click to access OMIM database) |
| Disorder: | Intellectual developmental disorder, autosomal recessive 14 |
| Also known as: | MRT14 |
| Clinical | |
| Phenotype: | mild to moderate impairment of intellectual development; narrow palate; dolicocephaly; dysgenesis of the corpus callosum |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | |
| Mutations | |
| 1 Hutterite | |
| Gene: | TECR |
| Base Change: | C>T, at nucleotide 545 |
| Amino Acid Change: | pro 182 --> leu |
| Last updated: | 2023-02-02 |
| References |
|---|
| Çalışkan M, Chong JX, Uricchio L, Anderson R, Chen P, Sougnez C, Garimella K, Gabriel SB, dePristo MA, Shakir K, Matern D, Das S, Waggoner D, Nicolae DL, Ober C. (2011) Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. Hum Mol Genet Apr 1;20(7):1285-9. PubMed ID: 21212097 |
| Chong JX, Ouwenga R, Anderson RL, Waggoner DJ, Ober C. (2012) A population-based study of autosomal-recessive disease-causing mutations in a founder population. Am J Hum Genet Oct 5;91(4):608-20. PubMed ID: 22981120 |
| Nolan DK, Chen P, Das S, Ober C, Waggoner D. (2008) Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13. Am J Med Genet A Jun 1;146A(11):1414-22. PubMed ID: 18446860 |
| Platt D, Davis-Keppen L. (2022) Individual with Homozygous TECR Variant Expands Upon the Existing Phenotype for a Hutterite Founder Mutation. S D Med Apr;75(4):150-153. PubMed ID: 35709344 |
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