PRSS1 (R122H) mutation in an Indian family with low penetrance is associated with pancreatitis phenotype
| Autor: | Urmila Steffie Avanthi, Ravikanth Vishnubhotla, Mohsin Aslam, Nageshwar R. Duvvur, Rupjyoti Talukdar, Govardhan Bale |
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| Rok vydání: | 2017 |
| Předmět: |
Proband
Heterozygote India Penetrance medicine.disease_cause Asymptomatic 03 medical and health sciences 0302 clinical medicine Asian People Pancreatitis Chronic medicine Humans Trypsin Child Genes Dominant Genetics PRSS1 Gene Hereditary pancreatitis Mutation business.industry Gastroenterology medicine.disease Phenotype 030220 oncology & carcinogenesis Pancreatitis 030211 gastroenterology & hepatology Female medicine.symptom business |
| Zdroj: | Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology. 37(1) |
| ISSN: | 0975-0711 |
| Popis: | Mutations in PRSS1 gene namely R122H and N29I cause hereditary pancreatitis. They are autosomal dominant with a high penetrance (80%) reported in North American, North-east Asian, and North European ethnicities. However, the mutations are reportedly absent in Indian, African, and South American ethnicities. We report here for the first time a family from India that is positive for R122H mutation in the PRSS1 gene. The proband is symptomatic with chronic pancreatitis, however, the father although heterozygous for R122H is asymptomatic. |
| Databáze: | OpenAIRE |
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