Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome
| Autor: | Martin Zenker, Nima Rezaei, Mozhgan Sabbaghian, Gholam Hossein Fallahi, Manijeh Khalili, Nima Parvaneh |
|---|---|
| Rok vydání: | 2010 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty Hearing Loss Sensorineural Ubiquitin-Protein Ligases Nonsense mutation Gene mutation Deafness Nose Short stature Anus Imperforate Hypothyroidism Ectodermal Dysplasia Internal medicine Ductus arteriosus Intellectual Disability medicine Humans Exocrine pancreatic insufficiency Growth Disorders business.industry Homozygote Infant Pancreatic Diseases Aplasia Exons medicine.disease Johanson–Blizzard syndrome Endocrinology medicine.anatomical_structure Codon Nonsense Pediatrics Perinatology and Child Health Failure to thrive Exocrine Pancreatic Insufficiency medicine.symptom business |
| Zdroj: | European journal of pediatrics. 170(2) |
| ISSN: | 1432-1076 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink