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Characterization of two deletions of the CTRC locus.

Abstract：

:Novel variants associated with chronic pancreatitis are being increasingly reported. However, most studies have so far only analyzed point mutations and small insertions or deletions. Here we report the characterization of two distinct deletions of the CTRC locus. Variants in four chronic pancreatitis genes, PRSS1, SPINK1, CTRC and CFTR, were systematically analyzed in the studied cases. Copy number change of the CTRC gene was analyzed by quantitative fluorescent multiplex PCR (QFM-PCR). Walking QFM-PCR followed by long-range PCR and direct sequencing were employed to identify the deletion breakpoints at the nucleotide level. A heterozygous CTRC-deleting complex rearrangement, which was co-inherited with different trans variants in SPINK1, CFTR or PRSS1, is associated with variable phenotypes (chronic pancreatitis; pancreatic cancer and chronic pancreatitis; and type 1 diabetes). Moreover, a different homozygous deletion of the CTRC locus was found in an unrelated patient with asymptomatic chronic pancreatitis. Our findings revealed a hitherto unrecognized level of complexity of genotype-phenotype correlation in chronic pancreatitis. The CTRC-deleting complex rearrangement probably resulted from LINE-1-mediated Alu insertion, which represents a novel mutational mechanism causing chronic pancreatitis.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Masson E,Hammel P,Garceau C,Bénech C,Quéméner-Redon S,Chen JM,Férec C

doi

10.1016/j.ymgme.2013.04.022

subject

Has Abstract

pub_date

2013-07-01 00:00:00

pages

296-300

issue

3

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(13)00152-2

journal_volume

109

pub_type

杂志文章

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