Clinical manifestation of Johanson-Blizzard syndrome in patient with nucleotide variants in UBR1 gene

Introduction. Johanson-Blizzard syndrome is a very rare genetic disorder caused by mutation of the ubiquitin protein ligase E3 component N-recognin 1 (UBR1). Clinical diagnosis based on pathognomonic combination congenital exocrine pancreatic insufficiency with facial dysmorphology (nasal wing hypo/aplasia, and oligodontia permanent teeth). Diagnosis confirmed screening UBR1 gene. The purpose this case report to emphasize that nucleotide variants in gene are described as benign or unclassified should be considered causes patients clinical characteristics syndrome. Case report. In report, we present an 8-month old child who was admitted our hospital due poor weight gain loose stools. On admission, signs protein-energy malnutrition, dysmorphological other anomalies, were observed. He had hypotonia convergent strabismus. A laboratory examination hypothyroidism. Genetic testing two single N-Recognin 1, chromosome 15q15.2: NM_174916.3:c.4700+12A>G (intron 42), NM_174916.3 UBR1:c.862-18C>T 07). enzyme replacement therapy liposoluble vitamin supplementation adequate nutrition conducted. Conclusion. Recognition features confirmation important, especially idiopathic insufficiency. Even when not possible, treatment necessary for normal growth development child.