Mutation Report for: g.-17116delTGTT_human-ACHE
| g.-17116delTGTT_human-ACHE | Gene_locus | human-ACHE |
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| Mode_of_mutation | Natural mutant |
| Paper | Shapira_2000_Hum.Mol.Genet_9_1273 |
| Comment | deletion -17116 from transcription startTwo contiguous mutations, a T-->A substitution, disrupting a putative glucocorticoid response element, and a 4-bp deletion, abolishing one of two adjacent HNF3 binding sites, was identified 17 kb upstream of the transcription start site. Allele frequency for this mutation was 0.012, in 333 individuals of various ethnic origins, with a strong linkage between the deletion and the biochemically neutral H322N mutation in the coding region of ACHE. Heterozygous carriers of the deletion included a proband who presented with acute hypersensitivity to the anti-AChE pyridostigmine and another with unexplained excessive vomiting during a fourth pregnancy following three spontaneous abortions |
| Xenobiotic_sensitivity | Hypersensitivity to acetylcholinesterase inhibitors |
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