ABCMdb

PMID: 10909845

Chen JM, Ferec C
Molecular basis of hereditary pancreatitis.
Eur J Hum Genet. 2000 Jul;8(7):473-9., [PubMed]

Sentences

No. Mutations Sentence Comment

20 ABCC7 p.Arg117His To date, two missense mutations R122H (R117H)7 and N29I (N21I)15 in the cationic trypsinogen have been unambiguously associated with HP. Login to comment 21 ABCC7 p.Arg117His R122H (R117H) R122H, which results from a G > A (CGC > CAC) single nucleotide change in exon 3 of the cationic trypsinogen gene, is the first and most frequent mutation identified as being associated with HP.7,16-26 Whilst no one doubts its disease-causing role in HP, some27 do argue that 'self-destruct` mechanism proposed for R122H7 has not yet been proven. Login to comment 81 ABCC7 p.Leu327Arg It is worth pointing out that in 1996, the same year the identification of the cationic trypsinogen gene was associated with HP, mutations in the CFTR gene were reported to be detected in HP families.54 Of the two new mutations identified, a heterozygous L327R was found to segregate with the disease in one family. Login to comment 84 ABCC7 p.Leu327Arg Analogous with other atypical diseases of CF, including congenital absence of the vas deferens, chronic bronchitis and sinusitis with nasal polyposis, sporadic chronic pancreatitis with abnormal CFTR alleles was referred to as a monosymptomatic form of CF.57 These observations prompted us to re-evaluate the role of the L327R missense mutation in the CFTR gene identified in a single HP family.54 There could be three explanations: first, this substitution is indeed a disease-causing mutation. Login to comment 86 ABCC7 p.Leu327Arg Second, the L327R substitution represents a mere coincidence, provided that it does not have any phenotype-modifying effect on the disease. Login to comment