Low frequency of RET mutations in Hirschsprung disease in Sweden

Clinical Genetics - Tập 54 Số 1 - Trang 39-44 - 1998
Pär‐Johan Svensson1,2, Marie‐Louise Molander2, Charis Eng3, Maria Anvret4,1, Agneta Nordenskjöld1,2
1Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Hospital, Stockholm, Sweden,
2Department of Pediatric Surgery, Karolinska/St. Göran Hospital, Stockholm, Sweden
3Translational Research Laboratory, Department of Adult Oncology, Human Cancer Genetics Unit, Dana-Farber Cancer Institute, Department of Medicine, Harvard Medical School, Boston, MA, USA
4Department of Clinical Neuroscience, Karolinska Hospital, Stockholm, Sweden

Tóm tắt

Hirschsprung disease is a congenital malformation, where absence of intramural ganglia in the hindgut results in a defect in the coordination of peristaltic movement. This leads to ileus in the newborn or, more often, constipation in children and adults. The disease affects one in 5000 live births. Siblings of affected cases are at an increased risk (4%) of developing the disease. Among cases, males are affected more often than females.The first major susceptibility gene for Hirschsprung disease is the RET proto‐oncogene on 10q11.2. Germline RET mutations in Hirschsprung disease are mainly inactivating, and have been reported to account for up to 20 and 50% of sporadic and familial cases, respectively. We have screened Swedish population‐based samples from 62 sporadic cases and seven familial cases of Hirschsprung disease with single strand conformation polymorphism (SSCP), and found five mutations.

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Thông tin
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Clinical Genetics

Tập 54 Số 1

39-44

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