Novel UBR1 gene mutation in a patient with typical phenotype of Johanson–Blizzard syndrome
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Gholam Hossein Fallahi & Mozhgan Sabbaghian & Manijeh Khalili & Nima Parvaneh & Martin Zenker & Nima Rezaei
- چاپ و سال / کشور: 2011
Description
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.
Eur J Pediatr (2011) 170:233–235 DOI 10.1007/s00431-010-1239-y Received: 15 March 2010 / Accepted: 2 June 2010 / Published online: 17 June 2010
