Елизавета Шаронова » Публикация

Аннотация Laboratory of Genetic Epidemiology RAMS in collaboration with course of the skin and veneral disorders in childhood of Russian Medical Academy of Postgraduate education study hair growth abnormalities and scalp hair loss. In collaboration with Rogaev E.I., in 2006 year we mapped phospholipase gene (LIPH) from identified by us 59 Mari and Chuvash families, which had isolated hereditary hypotrichosis, and described mutation - deletion of exon 4 of the LIPH gene. We studied frequency of this mutation in healthy individuals of different ethnosis from the Volga-Ural region: Maris, Chuvashs, Bashkirs, Udmurts and Russian. At this moment, we found new mutation in P2PY5 receptor gene in one patient who had the similar to isolated hereditary hypotrichosis, caused by deletion of exon 4 of the LIPH gene, phenotype and hair structure. Further, we examined one family with clinical presentation similar to hereditary hypotrichosis, but in this family we observed spontaneously symptoms regress in adult age (although symptoms did not disappear completely). Hairs show typical beaded or monilethrix appearance and elliptical nodes separated by narrow internodes without medullary layer. We examined the patient with monilethrix by means of molecular genetic tests. We detect previously known mutation in 7 exon of the hHb6 gene. So, clinical presentation of hair growth abnormalities is similar in different gene defects. As a result, now we are working out the differential-diagnostic criteria for genetically different forms of isolated hereditary hypotrichosis.