Genetic analysis of Italian @entity1 with XXXX .

@entity5960 @entity32 @entity1 @entity5115 @entity72911 @entity17291 @entity294 @entity72915 @entity72913 @entity72912 @entity74 @entity72914
BACKGROUND: @entity5115 ( @entity5115 ), an inherited @entity74 , is a severe @entity294 of infancy which is clinically characterized by absence of @entity32 and presence of intestinal villous atrophy. Mutations in the @entity5960 gene were identified to cause @entity5115 . Recent cases of @entity5115 harboring the @entity72911 (19q13.2) mutation were described. METHODS: Four @entity5115 Italian @entity1 were clinically and immunohistochemically characterized. Direct DNA sequencing of @entity5960 and @entity72911 genes was performed. RESULTS: All @entity1 were of Italian origin. Three different mutations were detected (p.Asp219Metfs*15, @entity72912 *6 and @entity72913 ) in the @entity5960 gene; one of them is novel ( @entity72913 ). Two @entity1 (P1 and P2) showed compound heterozygosity revealing two mutations in separate alleles. A third @entity1 (P3) was heterozygous for only one novel @entity5960 missense mutation ( @entity72913 ). In a syndromic @entity1 (P4), no deleterious @entity5960 mutation was found. Additional @entity72911 mutational analysis was performed. P4 showed a homozygous @entity72911 mutation ( @entity72914 ). No @entity72911 mutation was found in P3. @entity17291 was also evaluated as a candidate gene by mutational screening in P3 but no mutation was identified. CONCLUSION: This study presented a molecular characterization of @entity5115 Italian @entity1 , and identified three mutations in the @entity5960 gene and one in the @entity72911 gene. One of @entity5960 mutations was novel, therefore increasing the mutational spectrum of allelic variants of the @entity5960 gene. Molecular analysis of the @entity72911 gene also allowed us to identify a @entity72911 substitution mutation ( @entity72915 ) recently found to be associated with syndromic @entity5115 subjects.
