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Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation.
Gene. 2015 Oct 01; 570(1):153-5.GENE

Abstract

Johanson-Blizzard Syndrome (JBS) (MIM #243800) is a rare autosomal recessive genetic disorder characterized by exocrine pancreatic insufficiency, abnormal facial appearance and varying degrees of mental retardation. Mutations in UBR1 gene (MIM *605981) are considered to be responsible for the syndrome. Here, we report a 3 year-old mentally normal JBS girl. The patient presented with exocrine pancreatic insufficiency as well as failure-to-thrive. On dysmorphological examination, she was noted to have an abnormal hair pattern with frontal upsweep and alae nasi hypoplasia. With these findings, JBS diagnosis was established clinically. Molecular analysis of the UBR1 gene revealed two inherited novel mutations; one coming from each parent. These novel mutations were c. 1280T>G and c. 2432+5G>C, and they were found to be disease causing via in-silico analysis. In conclusion, for patients with longstanding exocrine pancreatic insufficiency, it should be considered as being symptomatic of a far broader picture. To omit connection with rare genetic diseases, such as Johanson-Blizzard Syndrome, a detailed dysmorphological examination ought to be performed.

Authors+Show Affiliations

Division of Genetics, Department of Pediatrics, School of Medicine, Ege University, Izmir, Turkey. Electronic address: tahiratik@yahoo.com.Department of Pediatric Gastroenterology, Hepatology and Nutrition, School of Medicine, Ege University, Izmir, Turkey.Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.Division of Genetics, Department of Pediatrics, School of Medicine, Ege University, Izmir, Turkey.Department of Pediatric Gastroenterology, Hepatology and Nutrition, School of Medicine, Ege University, Izmir, Turkey.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

26149651

Citation

Atik, Tahir, et al. "Two Novel UBR1 Gene Mutations In a Patient With Johanson Blizzard Syndrome: a Mild Phenotype Without Mental Retardation." Gene, vol. 570, no. 1, 2015, pp. 153-5.
Atik T, Karakoyun M, Sukalo M, et al. Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation. Gene. 2015;570(1):153-5.
Atik, T., Karakoyun, M., Sukalo, M., Zenker, M., Ozkinay, F., & Aydoğdu, S. (2015). Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation. Gene, 570(1), 153-5. https://doi.org/10.1016/j.gene.2015.06.082
Atik T, et al. Two Novel UBR1 Gene Mutations In a Patient With Johanson Blizzard Syndrome: a Mild Phenotype Without Mental Retardation. Gene. 2015 Oct 1;570(1):153-5. PubMed PMID: 26149651.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation. AU - Atik,Tahir, AU - Karakoyun,Miray, AU - Sukalo,Maja, AU - Zenker,Martin, AU - Ozkinay,Ferda, AU - Aydoğdu,Sema, Y1 - 2015/07/03/ PY - 2015/03/10/received PY - 2015/05/31/revised PY - 2015/06/15/accepted PY - 2015/7/8/entrez PY - 2015/7/8/pubmed PY - 2015/10/10/medline KW - Alae nasi KW - Exocrine pancreas KW - Hypothyroidism KW - Johanson–Blizzard Syndrome SP - 153 EP - 5 JF - Gene JO - Gene VL - 570 IS - 1 N2 - Johanson-Blizzard Syndrome (JBS) (MIM #243800) is a rare autosomal recessive genetic disorder characterized by exocrine pancreatic insufficiency, abnormal facial appearance and varying degrees of mental retardation. Mutations in UBR1 gene (MIM *605981) are considered to be responsible for the syndrome. Here, we report a 3 year-old mentally normal JBS girl. The patient presented with exocrine pancreatic insufficiency as well as failure-to-thrive. On dysmorphological examination, she was noted to have an abnormal hair pattern with frontal upsweep and alae nasi hypoplasia. With these findings, JBS diagnosis was established clinically. Molecular analysis of the UBR1 gene revealed two inherited novel mutations; one coming from each parent. These novel mutations were c. 1280T>G and c. 2432+5G>C, and they were found to be disease causing via in-silico analysis. In conclusion, for patients with longstanding exocrine pancreatic insufficiency, it should be considered as being symptomatic of a far broader picture. To omit connection with rare genetic diseases, such as Johanson-Blizzard Syndrome, a detailed dysmorphological examination ought to be performed. SN - 1879-0038 UR - https://www.unboundmedicine.com/medline/citation/26149651/Two_novel_UBR1_gene_mutations_ın_a_patient_with_Johanson_Blizzard_Syndrome:_A_mild_phenotype_without_mental_retardation_ DB - PRIME DP - Unbound Medicine ER -