DOI: 10.1046/j.1365-2141.2001.02513.x. Denaturing gradient gel electrophoresis screening for mutations in the hereditary hyperferritinaemia cataract syndrome

Denaturing gradient gel electrophoresis screening for mutations in the hereditary hyperferritinaemia cataract syndrome

10.1046/j.1365-2141.2001.02513.x

Crossref journal-article

Wiley

British Journal of Haematology (311)

Abstract

Hereditary hyperferritinaemia cataract syndrome (HHCS) is characterized by hyperferritinaemia without iron overload. It is essential to differentiate true iron accumulation from HHCS as these patients rapidly develop iron‐deficient anaemia when subjected to phlebotomies. The diagnosis of HHCS relies on the identification of point mutations or deletions present in the iron‐responsive element of the first exon of the L‐ferritin gene. However, many samples referred for diagnosis of putative HHCS are normal. To avoid unnecessary DNA sequencing, we have developed a diagnosis strategy based on the screening of the target DNA region by denaturing gradient gel electrophoresis. This method enabled the accurate identification of 11 different previously known mutations. This strategy will be of interest for family studies or for the screening of large series of patients.

Bibliography

Giansily, M., Beaumont, C., Desveaux, C., Hetet, G., Schved, J., & AguilarâMartinez, P. (2001). Denaturing gradient gel electrophoresis screening for mutations in the hereditary hyperferritinaemia cataract syndrome. British Journal of Haematology, 112(1), 51â54. Portico.

Authors 6

Muriel Giansily (first)
Carole Beaumont (additional)
Cyrille Desveaux (additional)
Gilles Hetet (additional)
Jean‐François Schved (additional)
Patricia Aguilar‐Martinez (additional)

References 12 Referenced 14

10.1182/blood.V88.5.1895.bloodjournal8851895 / Blood / A novel mutation in the iron responsive element of ferritin L‐subunit gene as a cause for hereditary hyperferritinaemia‐cataract syndrome by Aguilar‐Martinez P. (1996)
10.1136/gut.41.3.408
{'key': 'e_1_2_5_4_1', 'first-page': '560', 'article-title': 'Hereditary hyperferritinemia–cataract syndrome: a de novo mutation in the iron responsive element of the L‐ferritin gene (letter)', 'volume': '84', 'author': 'Arosio C.', 'year': '1999', 'journal-title': 'Haematologica'} / Haematologica / Hereditary hyperferritinemia–cataract syndrome: a de novo mutation in the iron responsive element of the L‐ferritin gene (letter) by Arosio C. (1999)
10.1182/blood.V92.11.4480 / Blood / Coinheritance of alleles associated with hemochromatosis and hereditary hyperferritinemia–cataract syndrome (letter) by Barton J.C. (1998)
{'key': 'e_1_2_5_6_1', 'volume-title': 'Molecular & Cellular Iron Transport', 'author': 'Beaumont C.', 'year': '2000'} / Molecular & Cellular Iron Transport by Beaumont C. (2000)
10.1038/ng1295-444
10.1182/blood.V95.11.3280 / Blood / Translational pathophysiology: a novel molecular mechanism of human disease by Cazzola M. (2000)
{'key': 'e_1_2_5_9_1', 'first-page': '1627', 'article-title': 'An approach for screening of hereditary hyperferritinemia cataract syndrome (HHCS) by a new DG‐DGGE method for rapid mutational scanning in L‐ferritin chain IRE', 'volume': '65', 'author': 'Cremonesi L.', 'year': '1999', 'journal-title': 'American Journal of Human Genetics'} / American Journal of Human Genetics / An approach for screening of hereditary hyperferritinemia cataract syndrome (HHCS) by a new DG‐DGGE method for rapid mutational scanning in L‐ferritin chain IRE by Cremonesi L. (1999)
10.1182/blood.V86.11.4050.bloodjournal86114050 / Blood / Molecular basis for the recently described hereditary hyperferritinemia–cataract syndrome: a mutation in the iron‐responsive element of ferritin L‐subunit gene (the ‘Verona mutation’) by Girelli D. (1995)
10.1126/science.3685996
{'key': 'e_1_2_5_12_1', 'first-page': '482', 'volume-title': 'Methods in Enzymology', 'author': 'Lerman L.S.', 'year': '1987'} / Methods in Enzymology by Lerman L.S. (1987)
10.1093/nar/13.9.3111

Dates

Type	When
Created	23 years, 1 month ago (July 26, 2002, 6:10 a.m.)
Deposited	1 year, 10 months ago (Oct. 16, 2023, 9:35 p.m.)
Indexed	1 year, 1 month ago (July 17, 2024, 9:31 p.m.)
Issued	24 years, 8 months ago (Jan. 1, 2001)
Published	24 years, 8 months ago (Jan. 1, 2001)
Published Online	23 years, 8 months ago (Dec. 20, 2001)
Published Print	24 years, 8 months ago (Jan. 1, 2001)

Funders 0

None

BibTeX

@article{Giansily_2001, title={Denaturing gradient gel electrophoresis screening for mutations in the hereditary hyperferritinaemia cataract syndrome}, volume={112}, ISSN={1365-2141}, url={http://dx.doi.org/10.1046/j.1365-2141.2001.02513.x}, DOI={10.1046/j.1365-2141.2001.02513.x}, number={1}, journal={British Journal of Haematology}, publisher={Wiley}, author={Giansily, Muriel and Beaumont, Carole and Desveaux, Cyrille and Hetet, Gilles and Schved, Jean‐François and Aguilar‐Martinez, Patricia}, year={2001}, month=jan, pages={51–54} }

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