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Figure 3 | BMC Gastroenterology

Figure 3

From: A novel mutation of the calcium sensing receptor gene is associated with chronic pancreatitis in a family with heterozygous SPINK1 mutations

Figure 3

Family tree and clinical parameters of the family with SPINK1 (N34S) and CASR (518T>C) gene mutations Two family members were diagnosed with chronic pancreatitis and FHH (II:2 and II:4). Mutational analysis of the index patient (36 years) and three other individuals, respectively, mother (62), unaffected brother (43) and daughter (8) (I:2, II:3, II:4 and III:1) showed a heterozygous SPINK1 mutation (N34S). In addition, the index patient and his daughter (II:4, III:1) had a point mutation in exon 4 at position 518 (518T>C) of the CASR gene. As for the individual II:3 in generation I no family member complained about abdominal pain (I:1 deceased in 1971). DNA from the symptomatic brother (39 years) was unavailable for genetic testing, but CP and FHH was diagnosed clinically.

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BMC Gastroenterology

ISSN: 1471-230X

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