Спектр мутаций при аутосомно-рецессивном врожденном ихтиозе у больных в Российской Федерации

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of keratinization disorders. It is characterized by abnormal skin scaling and sometimes it is associated with erythema. At least 10 genes are known to determine development of ARCI. We performed DNA analysis in patients and their parents (when DNA of probands were not available) from 40 families aiming to search for mutations in TGM1 and ALOX12B genes. We found mutations in 7 families in TGM1 gene. There are mutations in Alox12B gene in 13 families. Two mutations were frequent: p.Ala597Glu at exon 14 was found in 9 families, p.Tyr521Cys at exon 12 was detected in 6 families. At least one of these mutations was determined in 12 of 13 (92%) families with mutations in ALOX12B gene.