Abstract
Johanson–Blizzard syndrome is a rare autosomal recessive disorder, characterized by exocrine pancreatic deficiency and a wide range of other abnormalities. We present here an infant with failure to thrive, exocrine pancreatic deficiency, short stature and developmental delay, cutis aplasia on the scalp, aplasia of alae nasi, hypospadias, hypothyroidism, myxomatous mitral valve, and patent ductus arteriosus. Molecular studies revealed a novel homozygous nonsense mutation in exon 38 of the UBR1 gene, which confirmed the diagnosis of Johanson–Blizzard syndrome. It should be acknowledged that the combination of exocrine pancreatic insufficiency and nasal wing hypo-aplasia is pathognomonic for this syndrome. Prompt diagnosis and exact monitoring of the patients with JBS are required to avoid further complications.
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References
Atlas AB, Rosh JR (2006) Cystic fibrosis and congenital anomalies of the exocrine pancreas. In: Wyllie R, Hyams JS (eds) Pediatric gastrointestinal and liver disease, 3rd edn. Saunders, Elsevier, Philadelphia, pp 1022–1041
Gershoni-Baruch R, Lerner A, Braun J et al (1990) Johanson–Blizzard syndrome: clinical spectrum and further delineation of the syndrome. Am J Med Genet 35:546–551
Hurst JA, Baraitser M (1989) Johanson–Blizzard syndrome. J Med Genet 26:45–48
Johanson AJ, Blizzard RM (1971) A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth and malabsorption. J Pediatr 79:982–987
Rezaei N, Pourpak Z, Aghamohammadi A et al (2006) Consanguinity in primary immunodeficiency disorders; the report from Iranian Primary Immunodeficiency Registry. Am J Reprod Immunol 56:145–151
Zenker M (2008) UBR1 and the N-edn-rule pathway and the Johanson–Blizzard syndrome. In: Epstein CJ, Erickson RP, Wynshaw-Boris A (eds) Inborn errors of development: The molecular basis of clinical disorders of morphogenesis, 2nd edn. Oxford University Press, New York, pp 1190–1194
Zenker M, Mayerle J, Lerch MM et al (2005) A deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson–Blizzard syndrome). Nat Genet 37:1345–1350
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Fallahi, G.H., Sabbaghian, M., Khalili, M. et al. Novel UBR1 gene mutation in a patient with typical phenotype of Johanson–Blizzard syndrome. Eur J Pediatr 170, 233–235 (2011). https://doi.org/10.1007/s00431-010-1239-y
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DOI: https://doi.org/10.1007/s00431-010-1239-y