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

Kevin C. Halling, Carlo R. Lazzaro, Ronald Honchel, José A. Bufill, Steven M. Powell, Carola A.S. Arndt, Noralane Morey Lindor

Research output: Contribution to journalArticle

49 Citations (Scopus)

Abstract

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 I sequences have occasionally been reported to cause other genetic diseases including type I 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.

Original languageEnglish (US)
Pages (from-to)97-102
Number of pages6
JournalHuman Heredity
Volume49
Issue number2
StatePublished - Mar 1999

Fingerprint

APC Genes
Aggressive Fibromatosis
Mutation
Germ-Line Mutation
Amish
Hemophilia B
Neoplasms
Inborn Genetic Diseases
Neurofibromatosis 1
Polyps
Codon
Colon
Breast Neoplasms
Messenger RNA
Hereditary Desmoid disease
Proteins

Keywords

  • Alu I repeat
  • APC
  • Desmoid tumors
  • Familial adenomatous polyposis

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Halling, K. C., Lazzaro, C. R., Honchel, R., Bufill, J. A., Powell, S. M., Arndt, C. A. S., & Lindor, N. M. (1999). Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene. Human Heredity, 49(2), 97-102.

Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene. / Halling, Kevin C.; Lazzaro, Carlo R.; Honchel, Ronald; Bufill, José A.; Powell, Steven M.; Arndt, Carola A.S.; Lindor, Noralane Morey.

In: Human Heredity, Vol. 49, No. 2, 03.1999, p. 97-102.

Research output: Contribution to journalArticle

Halling, KC, Lazzaro, CR, Honchel, R, Bufill, JA, Powell, SM, Arndt, CAS & Lindor, NM 1999, 'Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene', Human Heredity, vol. 49, no. 2, pp. 97-102.
Halling KC, Lazzaro CR, Honchel R, Bufill JA, Powell SM, Arndt CAS et al. Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene. Human Heredity. 1999 Mar;49(2):97-102.
Halling, Kevin C. ; Lazzaro, Carlo R. ; Honchel, Ronald ; Bufill, José A. ; Powell, Steven M. ; Arndt, Carola A.S. ; Lindor, Noralane Morey. / Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene. In: Human Heredity. 1999 ; Vol. 49, No. 2. pp. 97-102.
@article{b4377b54ee7143b88776ae7d92a22bdd,
title = "Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene",
abstract = "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 I sequences have occasionally been reported to cause other genetic diseases including type I 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.",
keywords = "Alu I repeat, APC, Desmoid tumors, Familial adenomatous polyposis",
author = "Halling, {Kevin C.} and Lazzaro, {Carlo R.} and Ronald Honchel and Bufill, {Jos{\'e} A.} and Powell, {Steven M.} and Arndt, {Carola A.S.} and Lindor, {Noralane Morey}",
year = "1999",
month = "3",
language = "English (US)",
volume = "49",
pages = "97--102",
journal = "Human Heredity",
issn = "0001-5652",
publisher = "S. Karger AG",
number = "2",

}

TY - JOUR

T1 - Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene

AU - Halling, Kevin C.

AU - Lazzaro, Carlo R.

AU - Honchel, Ronald

AU - Bufill, José A.

AU - Powell, Steven M.

AU - Arndt, Carola A.S.

AU - Lindor, Noralane Morey

PY - 1999/3

Y1 - 1999/3

N2 - 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 I sequences have occasionally been reported to cause other genetic diseases including type I 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.

AB - 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 I sequences have occasionally been reported to cause other genetic diseases including type I 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.

KW - Alu I repeat

KW - APC

KW - Desmoid tumors

KW - Familial adenomatous polyposis

UR - http://www.scopus.com/inward/record.url?scp=0032993456&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0032993456&partnerID=8YFLogxK

M3 - Article

VL - 49

SP - 97

EP - 102

JO - Human Heredity

JF - Human Heredity

SN - 0001-5652

IS - 2

ER -