Pigmented ocular fundus lesions (POFLS) and APC mutations in familial adenomatous polyposis

E. I. Traboulsi, J. Apostolides, F. M. Giardiello, I. E. Maumenee Hussels, A. J. Krush, S. V. Booker, Gloria M Petersen, S. R. Hamilton

Research output: Contribution to journalArticle

Abstract

Purpose: Familial adenomatous polyposis (FAP) results from a germline mutation in the adenomatous polyposis coli (APC) gene on 5q21. The extracolonic manifestations of FAP include POFLs, cutaneous cysts, osteomas, occult radio-opaque jaw lesions, odontomas, desmoids, and extracolonic cancers. We studied the distribution of POFLs by number and mutation in families of the Johns Hopkins Polyposis Registry. Methods: 42 of 51 (82%) families with FAP had an identifiable APC mutation. We correlated the presence and number of POFLs with the type and location of the mutation in the APC gene in 21 families where an ocular examination had been performed in at least one affected member, and where a systematic search for mutations in the APC gene had been undertaken. Families were considered POFL-positive if the average number of lesions per patient was 3 or more. Results: 15 of the 21 families (71.4%) were POFL-positive. Mutations of the APC gene could be detected in 15 of the 21 families. Of these, 12 (80%) were POFL-positive. Families with mutations at codons 215 (exon 5) and 302 (exon 8) were POFL-negative. Families with mutations in codons 541, 625, 1055, 1059, 1061, 1230, 1309, 1465, 1546 (exons 12-15) were POFL-positive. One patient with a mutation at codon 2621 (exon 15) had no POFLs. Conclusions: Mutations in exons 1-8 of the APC gene are associated with a POFL-negative phenotype, while those in exons 10-15 are generally associated with a POFL-positive phenotype. Mutations at codon 2621 may result in no ocular lesions.

Original languageEnglish (US)
JournalInvestigative Ophthalmology and Visual Science
Volume37
Issue number3
StatePublished - Feb 15 1996
Externally publishedYes

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Adenomatous Polyposis Coli
APC Genes
Mutation
Exons
Codon
Odontoma
Osteoma
Aggressive Fibromatosis
Phenotype
Germ-Line Mutation
Jaw
Registries
Cysts
Skin

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Traboulsi, E. I., Apostolides, J., Giardiello, F. M., Maumenee Hussels, I. E., Krush, A. J., Booker, S. V., ... Hamilton, S. R. (1996). Pigmented ocular fundus lesions (POFLS) and APC mutations in familial adenomatous polyposis. Investigative Ophthalmology and Visual Science, 37(3).

Pigmented ocular fundus lesions (POFLS) and APC mutations in familial adenomatous polyposis. / Traboulsi, E. I.; Apostolides, J.; Giardiello, F. M.; Maumenee Hussels, I. E.; Krush, A. J.; Booker, S. V.; Petersen, Gloria M; Hamilton, S. R.

In: Investigative Ophthalmology and Visual Science, Vol. 37, No. 3, 15.02.1996.

Research output: Contribution to journalArticle

Traboulsi, EI, Apostolides, J, Giardiello, FM, Maumenee Hussels, IE, Krush, AJ, Booker, SV, Petersen, GM & Hamilton, SR 1996, 'Pigmented ocular fundus lesions (POFLS) and APC mutations in familial adenomatous polyposis', Investigative Ophthalmology and Visual Science, vol. 37, no. 3.
Traboulsi EI, Apostolides J, Giardiello FM, Maumenee Hussels IE, Krush AJ, Booker SV et al. Pigmented ocular fundus lesions (POFLS) and APC mutations in familial adenomatous polyposis. Investigative Ophthalmology and Visual Science. 1996 Feb 15;37(3).
Traboulsi, E. I. ; Apostolides, J. ; Giardiello, F. M. ; Maumenee Hussels, I. E. ; Krush, A. J. ; Booker, S. V. ; Petersen, Gloria M ; Hamilton, S. R. / Pigmented ocular fundus lesions (POFLS) and APC mutations in familial adenomatous polyposis. In: Investigative Ophthalmology and Visual Science. 1996 ; Vol. 37, No. 3.
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abstract = "Purpose: Familial adenomatous polyposis (FAP) results from a germline mutation in the adenomatous polyposis coli (APC) gene on 5q21. The extracolonic manifestations of FAP include POFLs, cutaneous cysts, osteomas, occult radio-opaque jaw lesions, odontomas, desmoids, and extracolonic cancers. We studied the distribution of POFLs by number and mutation in families of the Johns Hopkins Polyposis Registry. Methods: 42 of 51 (82{\%}) families with FAP had an identifiable APC mutation. We correlated the presence and number of POFLs with the type and location of the mutation in the APC gene in 21 families where an ocular examination had been performed in at least one affected member, and where a systematic search for mutations in the APC gene had been undertaken. Families were considered POFL-positive if the average number of lesions per patient was 3 or more. Results: 15 of the 21 families (71.4{\%}) were POFL-positive. Mutations of the APC gene could be detected in 15 of the 21 families. Of these, 12 (80{\%}) were POFL-positive. Families with mutations at codons 215 (exon 5) and 302 (exon 8) were POFL-negative. Families with mutations in codons 541, 625, 1055, 1059, 1061, 1230, 1309, 1465, 1546 (exons 12-15) were POFL-positive. One patient with a mutation at codon 2621 (exon 15) had no POFLs. Conclusions: Mutations in exons 1-8 of the APC gene are associated with a POFL-negative phenotype, while those in exons 10-15 are generally associated with a POFL-positive phenotype. Mutations at codon 2621 may result in no ocular lesions.",
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T1 - Pigmented ocular fundus lesions (POFLS) and APC mutations in familial adenomatous polyposis

AU - Traboulsi, E. I.

AU - Apostolides, J.

AU - Giardiello, F. M.

AU - Maumenee Hussels, I. E.

AU - Krush, A. J.

AU - Booker, S. V.

AU - Petersen, Gloria M

AU - Hamilton, S. R.

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N2 - Purpose: Familial adenomatous polyposis (FAP) results from a germline mutation in the adenomatous polyposis coli (APC) gene on 5q21. The extracolonic manifestations of FAP include POFLs, cutaneous cysts, osteomas, occult radio-opaque jaw lesions, odontomas, desmoids, and extracolonic cancers. We studied the distribution of POFLs by number and mutation in families of the Johns Hopkins Polyposis Registry. Methods: 42 of 51 (82%) families with FAP had an identifiable APC mutation. We correlated the presence and number of POFLs with the type and location of the mutation in the APC gene in 21 families where an ocular examination had been performed in at least one affected member, and where a systematic search for mutations in the APC gene had been undertaken. Families were considered POFL-positive if the average number of lesions per patient was 3 or more. Results: 15 of the 21 families (71.4%) were POFL-positive. Mutations of the APC gene could be detected in 15 of the 21 families. Of these, 12 (80%) were POFL-positive. Families with mutations at codons 215 (exon 5) and 302 (exon 8) were POFL-negative. Families with mutations in codons 541, 625, 1055, 1059, 1061, 1230, 1309, 1465, 1546 (exons 12-15) were POFL-positive. One patient with a mutation at codon 2621 (exon 15) had no POFLs. Conclusions: Mutations in exons 1-8 of the APC gene are associated with a POFL-negative phenotype, while those in exons 10-15 are generally associated with a POFL-positive phenotype. Mutations at codon 2621 may result in no ocular lesions.

AB - Purpose: Familial adenomatous polyposis (FAP) results from a germline mutation in the adenomatous polyposis coli (APC) gene on 5q21. The extracolonic manifestations of FAP include POFLs, cutaneous cysts, osteomas, occult radio-opaque jaw lesions, odontomas, desmoids, and extracolonic cancers. We studied the distribution of POFLs by number and mutation in families of the Johns Hopkins Polyposis Registry. Methods: 42 of 51 (82%) families with FAP had an identifiable APC mutation. We correlated the presence and number of POFLs with the type and location of the mutation in the APC gene in 21 families where an ocular examination had been performed in at least one affected member, and where a systematic search for mutations in the APC gene had been undertaken. Families were considered POFL-positive if the average number of lesions per patient was 3 or more. Results: 15 of the 21 families (71.4%) were POFL-positive. Mutations of the APC gene could be detected in 15 of the 21 families. Of these, 12 (80%) were POFL-positive. Families with mutations at codons 215 (exon 5) and 302 (exon 8) were POFL-negative. Families with mutations in codons 541, 625, 1055, 1059, 1061, 1230, 1309, 1465, 1546 (exons 12-15) were POFL-positive. One patient with a mutation at codon 2621 (exon 15) had no POFLs. Conclusions: Mutations in exons 1-8 of the APC gene are associated with a POFL-negative phenotype, while those in exons 10-15 are generally associated with a POFL-positive phenotype. Mutations at codon 2621 may result in no ocular lesions.

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