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Organization: Research Clinical Institute of Pediatrics, N.I.Pirogov Russian National Research Medical University, Moscow, RF; Purpose: a case of primary ciliary dyskinesia (PCD) in Dagestan’s boy confirmed via whole exome DNA sequencing. Methods and materials: We examined a 17-year-old boy from the mountainous Dagestan’s village (RF) suffering from birth from the persistent cough with sputum, shortness of breath, persistent nasal congestion, hearing loss, retarded physical development, chest deformity and peripheral osteoarthropathy, at 5 years underwent a resection of the left lower lobe and middle lobe of the right lung due to multiple bronchiectasis. Phase-contrast microscopy of the of the nasal and bronchial bruching revealed a marked reduction in the number and bitting frequency of motile cilia. Nasal nitric oxide was 23ppb. Results: The diagnosis of PCD was ascertained at the age of 15 years. The searching for common PCD mutations (genes DNAI1, DNAH1, DNAH5) via simple automathic sequencing didn’t educe any positive results. The whole exome DNA sequencing revealed a homozygous mutation in exon-1 gene CCNO (chr5: 54529099C> CGGGCA, rs753409639, rs587777498), leading to a shift of the reading frame starting from codon 85 (p.Gly85fs, NM_021147.4). There are two descriptions of patients from Irish and Kuwaiti populations with a similar mutation gene CCNO (gene cyclinO; 5q11.2; 607752.0001) in PCD 29 type (OMIM: 615872, CILD29). Conclusions: Performing of the whole exome DNA sequencing in patients with PCD leds to highlight the genetic heterogeneity of the disease |
