A 93 year old man with the PRSS1 R122H mutation, low SPINK1 expression, and no pancreatitis: insights into phenotypic non-penetrance
نویسندگان
چکیده
منابع مشابه
Low penetrance pancreatitis phenotype in a Venezuelan kindred with a PRSS1 R122H mutation.
CONTEXT Hereditary pancreatitis is typically caused by the PRSS1 R122H or N29I mutations resulting in high penetrance (about 80%) autosomal dominant disorder that is usually reported in North America, Northern Europe and Northeast Asia, but not South America, Africa or India. CASE REPORT Here we report a kindred from Venezuela, South America with the PRSS1 R122H variant. Only the proband, an ...
متن کاملA 93 year old man with the PRSS 1 R 122 H mutation , low SPINK 1 expression and without pancreatitis : Insights into phenotypic non
Background: The cationic trypsinogen (PRSS1) R122H mutation causes autosomal dominant hereditary pancreatitis (HP) with multiple attacks of acute pancreatitis, but the penetrance, frequency and severity of attacks are highly variable. HP twins study suggests that modifier genes influence severity, but not penetrance. Aim: To investigate potential trypsin-associated factors in subjects with the ...
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متن کاملMutation analysis of PRSS1, SPINK1 and CFTR gene in patients with alcoholic and idiopathic chronic pancreatitis: A single center study.
BACKGROUND/AIMS A relation between some genetic mutations and chronic pancreatitis (CP) has been reported. However, the relation of genetic mutation to alcoholic CP (ACP) and idiopathic CP (ICP) still remains controversial. In this study, we investigated the prevalence of protease serine 1 (PRSS1), serine protease inhibitor, Kazal type 1 (SPINK1) SPINK1 and cystic fibrosis transmembrane conduct...
متن کاملThe course of genetically determined chronic pancreatitis.
CONTEXT The clinical course of chronic pancreatitis in patients with mutations of cationic trypsinogen and the trypsin inhibitor SPINK1 has not yet been characterized. SETTING Cationic trypsinogen (PRSS1) and the serine protease inhibitor, Kazal type 1 (SPINK1), were analyzed in patients with pancreatitis of unclear origin. PATIENTS Eighty subjects with trypsinogen mutations (21x N29I, 59x ...
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ژورنال
عنوان ژورنال: Gut
سال: 2006
ISSN: 0017-5749
DOI: 10.1136/gut.2005.067959