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Congenital hypertrophy of the retinal pigment epithelium and APC mutations in two Chinese families with familial adenomatous polyposis.
Eye (Lond). 2000 Feb; 14 (Pt 1):18-22.E

Abstract

PURPOSE

Congenital hypertrophy of the retinal pigment epithelium (CHRPE) exists almost exclusively among familial adenomatous polyposis (FAP) patients with adenomatous polyposis coli (APC) mutations between codon 413 in exon 9 and codon 1387 in exon 15. We investigated the locality of APC mutations in relationship to the occurrence of CHRPE in two Chinese families with FAP.

METHODS

Genomic DNA of available members of two unrelated Chinese FAP families was investigated for sequence alteration in the APC gene by polymerase chain reaction and direct sequencing. All subjects were examined by binocular indirect ophthalmoscopy (BIO) for CHRPE.

RESULTS

A mutation in exon 6, Arg216Stop, was identified in one patient with FAP and CHRPE. An Arg283Stop mutation in exon 8 was found in 5 members in another family; 4 of them had FAP and all had small hypopigmented white lesions, probably a new type of CHRPE.

CONCLUSIONS

We found two mutations, Arg216Stop and Arg283Stop, upstream of codon 413 in FAP patients presenting with CHRPE. Arg283Stop has not previously been reported in such patients. A large-scale study on CHRPE and APC mutations in Chinese FAP patients is required to affirm their inter-relationships and the significance of the hypopigmented white lesions.

Authors+Show Affiliations

Department of Ophthalmology & Visual Sciences, Chinese University of Hong Kong, Shatin. cppang@cuhk.edu.hkNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

10755094

Citation

Pang, C P., et al. "Congenital Hypertrophy of the Retinal Pigment Epithelium and APC Mutations in Two Chinese Families With Familial Adenomatous Polyposis." Eye (London, England), vol. 14 (Pt 1), 2000, pp. 18-22.
Pang CP, Keung JW, Tang NL, et al. Congenital hypertrophy of the retinal pigment epithelium and APC mutations in two Chinese families with familial adenomatous polyposis. Eye (Lond). 2000;14 (Pt 1):18-22.
Pang, C. P., Keung, J. W., Tang, N. L., Fan, D. S., Lau, J. W., & Lam, D. S. (2000). Congenital hypertrophy of the retinal pigment epithelium and APC mutations in two Chinese families with familial adenomatous polyposis. Eye (London, England), 14 (Pt 1), 18-22.
Pang CP, et al. Congenital Hypertrophy of the Retinal Pigment Epithelium and APC Mutations in Two Chinese Families With Familial Adenomatous Polyposis. Eye (Lond). 2000;14 (Pt 1):18-22. PubMed PMID: 10755094.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Congenital hypertrophy of the retinal pigment epithelium and APC mutations in two Chinese families with familial adenomatous polyposis. AU - Pang,C P, AU - Keung,J W, AU - Tang,N L, AU - Fan,D S, AU - Lau,J W, AU - Lam,D S, PY - 2001/2/7/pubmed PY - 2001/2/7/medline PY - 2001/2/7/entrez SP - 18 EP - 22 JF - Eye (London, England) JO - Eye (Lond) VL - 14 (Pt 1) N2 - PURPOSE: Congenital hypertrophy of the retinal pigment epithelium (CHRPE) exists almost exclusively among familial adenomatous polyposis (FAP) patients with adenomatous polyposis coli (APC) mutations between codon 413 in exon 9 and codon 1387 in exon 15. We investigated the locality of APC mutations in relationship to the occurrence of CHRPE in two Chinese families with FAP. METHODS: Genomic DNA of available members of two unrelated Chinese FAP families was investigated for sequence alteration in the APC gene by polymerase chain reaction and direct sequencing. All subjects were examined by binocular indirect ophthalmoscopy (BIO) for CHRPE. RESULTS: A mutation in exon 6, Arg216Stop, was identified in one patient with FAP and CHRPE. An Arg283Stop mutation in exon 8 was found in 5 members in another family; 4 of them had FAP and all had small hypopigmented white lesions, probably a new type of CHRPE. CONCLUSIONS: We found two mutations, Arg216Stop and Arg283Stop, upstream of codon 413 in FAP patients presenting with CHRPE. Arg283Stop has not previously been reported in such patients. A large-scale study on CHRPE and APC mutations in Chinese FAP patients is required to affirm their inter-relationships and the significance of the hypopigmented white lesions. SN - 0950-222X UR - https://www.unboundmedicine.com/medline/citation/10755094/Congenital_hypertrophy_of_the_retinal_pigment_epithelium_and_APC_mutations_in_two_Chinese_families_with_familial_adenomatous_polyposis_ L2 - https://doi.org/10.1038/eye.2000.5 DB - PRIME DP - Unbound Medicine ER -