High prevalence of autosomal recessive congenital ichthyosis in a Mexican population caused by a new mutation in the TGM1 gene: epidemiological evidence of a founder effect.
Manuel González-Del CarmenSarita MontañoOctavio D Reyes-HernándezPablo A Vizcaíno-DoradoNorberto Leyva-GarcíaJuan C Morales-MorfínWendy Diaz-BeltranEdna Quinto-SantiagoLizbeth Cariño-CalvoJonathan J MagañaGerardo Leyva-GómezHernán CortésPublished in: International journal of dermatology (2020)
We report a novel mutation in the TGM1 gene in 62 Mexican patients. The unusually high frequency of this mutation suggests a founder effect; however, further haplotype analysis is necessary to corroborate this hypothesis. In this respect, to our knowledge, the prevalence of ARCI found in the studied communities is the highest observed worldwide.