Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene

被引:48
作者
Halling, KC
Lazzaro, CR
Honchel, R
Bufill, JA
Powell, SM
Arndt, CAS
Lindor, NM
机构
[1] Mayo Clin, Dept Med Genet, Rochester, MN 55905 USA
[2] Indiana Univ, Sch Med, Dept Pathol & Lab Med, Indianapolis, IN USA
[3] Hereditary Canc Program, Elkhart, IN USA
[4] Univ Virginia, Sch Med, Dept Gastroenterol, Charlottesville, VA 22908 USA
关键词
familial adenomatous polyposis; APC; Alu I repeat; desmoid tumors;
D O I
10.1159/000022852
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Two families with autosomal dominantly inherited desmoid tumors have recently been shown to have germline mutations at the 3' end of the APC gene. We subsequently identified an Amish family with autosomal dominantly inherited desmoid tumors, Genetic analysis performed on one family member, a 47-year-old man with multiple desmoid tumors and no colon polyps, revealed a protein truncating mutation in the middle of the APC gene. The truncating mutation is the result of a 337-bp insertion of an Alu I sequence into codon 1526 of the APC gene. The presence of a poly(A) tail at the 3' end of the insertion suggests that the Alu I sequence was inserted by a retrotranspositional event. Germline insertions of Alu/sequences have occasionally been reported to cause other genetic diseases including type 1 neurofibromatosis, hereditary site-specific breast cancer (BRCA2), and hemophilia B. However, this is the first report of a germline mutation of the APC gene resulting from an Alu I insertion.
引用
收藏
页码:97 / 102
页数:6
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