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Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome.
Eur J Pediatr. 2011 Feb; 170(2):233-5.EJ

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.

Authors+Show Affiliations

Department of Pediatrics, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

20556423

Citation

Fallahi, Gholam Hossein, et al. "Novel UBR1 Gene Mutation in a Patient With Typical Phenotype of Johanson-Blizzard Syndrome." European Journal of Pediatrics, vol. 170, no. 2, 2011, pp. 233-5.
Fallahi GH, Sabbaghian M, Khalili M, et al. Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome. Eur J Pediatr. 2011;170(2):233-5.
Fallahi, G. H., Sabbaghian, M., Khalili, M., Parvaneh, N., Zenker, M., & Rezaei, N. (2011). Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome. European Journal of Pediatrics, 170(2), 233-5. https://doi.org/10.1007/s00431-010-1239-y
Fallahi GH, et al. Novel UBR1 Gene Mutation in a Patient With Typical Phenotype of Johanson-Blizzard Syndrome. Eur J Pediatr. 2011;170(2):233-5. PubMed PMID: 20556423.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome. AU - Fallahi,Gholam Hossein, AU - Sabbaghian,Mozhgan, AU - Khalili,Manijeh, AU - Parvaneh,Nima, AU - Zenker,Martin, AU - Rezaei,Nima, Y1 - 2010/06/17/ PY - 2010/03/15/received PY - 2010/06/02/accepted PY - 2010/6/18/entrez PY - 2010/6/18/pubmed PY - 2011/7/1/medline SP - 233 EP - 5 JF - European journal of pediatrics JO - Eur J Pediatr VL - 170 IS - 2 N2 - 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. SN - 1432-1076 UR - https://www.unboundmedicine.com/medline/citation/20556423/Novel_UBR1_gene_mutation_in_a_patient_with_typical_phenotype_of_Johanson_Blizzard_syndrome_ L2 - https://dx.doi.org/10.1007/s00431-010-1239-y DB - PRIME DP - Unbound Medicine ER -