+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis: Novel criteria of assessment and correlations with constitutional adenomatous polyposis coli gene mutations



Congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis: Novel criteria of assessment and correlations with constitutional adenomatous polyposis coli gene mutations



Cancer 78(11): 2400-2410



BACKGROUND. Congenital hypertrophy of the retinal pigment epithelium (CHRPE) is the most common extracolonic manifestation of familial adenomatous polyposis (FAP) and is an early clinical marker of the disease. It seems to be correlated with the position of constitutional mutations of the adenomatous polyposis coli (APC) gene. METHODS. The authors investigated the expression of CHRPE and its correlation with the position of the APC gene in FAP patients and in "at risk" relatives from 31 FAP kindreds. To obtain comparable data on CHRPE expression, the authors developed a novel scoring system based on morphologic and dimensional criteria. RESULTS. A positive CHRPE score was obtained in 29 of 39 FAP patients (74%) and in 16 of 53 relatives who showed no clinical evidence of FAP (30%). Colonoscopy revealed polyps in 20 of the 47 relatives who could be examined. The cumulative sensitivity and specificity of CHRPE were 72.88% and 96.29%, respectively. APC gene mutations were characterized in 34 subjects from 17 kindreds. In 28 of the subjects, mutations were detected in exon 15, between codons 876 and 1324. Mutations were found in exon 9 in 6 subjects. In 3 of the 6 subjects, they were found at the site where both forms of alternative splicing of the exon occur (codon 437). In the other 3 subjects (another kindred), mutations were found in the portion of exon 9 in which alternative splicing occurs (codon 367). Only 1 of the 6 subjects (16.6%) with mutations in exon 9 had a positive CHRPE score, compared with 28 of 28 subjects (100%) with mutations in exon 15. None of the 3 subjects with mutations in codon 437 had a positive CHRPE score. The CHRPE scores of exon 15 mutation carriers varied markedly both within and among kindreds, irrespective of the mutation site. CONCLUSIONS. The results of this study indicate that the site of APC gene mutation influences CHRPE expression but is not the only factor responsible for the presence and level of retinal lesions in FAP patients.

Please choose payment method:






(PDF emailed within 0-6 h: $19.90)

Accession: 008375383

Download citation: RISBibTeXText

PMID: 8941012

DOI: 10.1002/(sici)1097-0142(19961201)78:11<2400::aid-cncr19>3.0.co;2-4


Related references

Assessment of the value of congenital hypertrophy of the retinal pigment epithelium as an ocular marker for familial adenomatous polyposis coli. Eye 7: 562-564, 1993

The relationship between congenital hypertrophy of the retinal pigment epithelium and mutations in the adenomatous polyposis coli gene. Investigative Ophthalmology & Visual Science 38(4 Part 1-2): S798, 1997

The relationship between congenital hypertrophy of the retinal pigment epithelium (CHRPE) and germline mutations in the adenomatous polyposis coli (APC) gene. Ophthalmic Genetics 20(1): 53-56, 1999

Congenital hypertrophy of the retinal pigment epithelium and APC mutations in Chinese with familial adenomatous polyposis. Ophthalmologica. Journal International D'ophtalmologie. International Journal of Ophthalmology. Zeitschrift für Augenheilkunde 215(6): 408-411, 2001

Congenital hypertrophy of retinal pigment epithelium (CHRPE) in patients with familial adenomatous polyposis (FAP); a polyposis registry experience. Bmc Research Notes 7: 734, 2014

Congenital hypertrophy of the retinal pigment epithelium and APC mutations in two Chinese families with familial adenomatous polyposis. Eye 14: 18-22, 2001

Congenital hypertrophy of the retinal pigment epithelium and familial adenomatous polyposis coli An association which deserves further investigation. Gastroenterology 110(4 Suppl. ): A576, 1996

The presence of congenital hypertrophy of the retinal pigment epithelium in a subgroup of patients with adenomatous polyposis coli mutations. Eye 11: 298-300, 1997

Incidence and significance of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial adenomatous polyposis coli (FAPC). Ophthalmic Paediatrics and Genetics 13(2): 67-71, 1992

Familial adenomatous polyposis Is congenital hypertrophy of the retinal pigment epithelium reliable for the diagnosis and caused by the same gene?. Gastroenterology 104(4 Suppl. ): A1053, 1993

Screening for mutations of the adenomatous polyposis coli gene in 67 Italian familial adenomatous polyposis Further evidence of complex genotype-phenotype correlations. Gastroenterology 114(4 Part 2): A566, 1998

Congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis. Ophthalmology 96(6): 879-884, 1989

Congenital Hypertrophy of the Retinal Pigment Epithelium in Familial Adenomatous Polyposis. Ophthalmology 96(6): 879-884, 1989

Congenital hypertrophy of the retinal pigment epithelium associated with familial adenomatous polyposis. Clinical and Experimental Optometry 78(4): 135-137, 1995

Congenital hypertrophy of the retinal pigment epithelium associated with familial adenomatous polyposis. Retina 14(1): 6-9, 1994