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Genetic analysis of Italian patients with congenital tufting enteropathy

World Journal of Pediatrics 2016年第2期12卷 219-224页

作者： Maria d'Apolito Daniela Pisanelli flavio faletra Ida Giardino Maddalena Gigante Massimo Pettoello-Mantovani Olivier Goulet Paolo Gasparini Angelo Campanozzi Unit of Pediatrics Department of Medical and Surgical SciencesUniversity of FoggiaItaly Institute for Maternal and Child Health-IRCCS"BurloGarofolo" TriesteItaly Laboratory Medicine Department of Clinical and Experimental MedicineUniversity of FoggiaFoggiaItaly Department of Medical and Surgical Sciences University of FoggiaFoggiaItaly Department of Pediatric Gastroenterology-Hepatology and Nutrition and Reference Center for Rare Digestive Disease Hopital Necker-EnfantsMaladesParisFrance

Background:Congenital tufting enteropathy(CTE),an inherited autosomal recessive rare disease,is a severe diarrhea of infancy which is clinically characterized by absence of infl ammation and presence of intestinal villous *** in the EpCAM gene were identified to cause *** cases of syndromic tufting enteropathy harboring the SPINT2(19q13.2)mutation were ***:Four CTE Italian patients were clinically and immunohistochemically *** DNA sequencing of EpCAM and SPINT2 genes was ***:All patients were of Italian *** different mutations were detected(***219Metfs*15,Tyr186Phefs*6 and ***146Asn)in the EpCAM gene;one of them is novel(***146Asn).Two patients(P1 and P2)showed compound heterozygosity revealing two mutations in separate alleles.A third patient(P3)was heterozygous for only one novel EpCAM missense mutation(***146Asn).In a syndromic patient(P4),no deleterious EpCAM mutation was *** SPINT2 mutational analysis was performed.P4 showed a homozygous SPINT2 mutation(p.Y163C).No SPINT2 mutation was found in ***7 was also evaluated as a candidate gene by mutational screening in P3 but no mutation was identifi ***:This study presented a molecular characterization of CTE Italian patients,and identified three mutations in the EpCAM gene and one in the SPINT2 *** of EpCAM mutations was novel,therefore increasing the mutational spectrum of allelic variants of the EpCAM *** analysis of the SPINT2 gene also allowed us to identify a SPINT2 substitution mutation(c.488A>G)recently found to be associated with syndromic CTE subjects.

关键词： diarrhea gastroenterology gene mutation

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