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Literature DB >> 1783380

Major rearrangements in the alpha 5(IV) collagen gene in three patients with Alport syndrome.

E Boye¹, D Vetrie, F Flinter, B Buckle, T Pihlajaniemi, E R Hamalainen, J C Myers, M Bobrow, A Harris.

Abstract

The gene coding for the alpha 5 chian of type IV collagen (alpha 5(IV) collagen), which maps to Xq22, is a candidate gene for the X-linked dominant disease Alport syndrome (AS). Using three cDNA clones, covering the 3' end of the alpha 5(IV) collagen gene, 3 of 38 patients have been identified with mutations in this gene. Each of these patients shows a gross rearrangement of DNA: a deletion of at least 35 kb, an insertion/deletion event involving approximately 25 kb, and a duplication of at least 35 kb of DNA.

Entities: Disease Gene Species

Mesh：

Substances：
Collagen
DNA

Year: 1991 PMID： 1783380 DOI： 10.1016/0888-7543(91)90040-l

Source DB: PubMed Journal: Genomics ISSN： 0888-7543 Impact factor: 5.736

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Cited

11 in total

1. The molecular genetics of Alport syndrome: report of two workshops.

Authors: F Flinter; M Bobrow
Journal: J Med Genet Date: 1992-05 Impact factor: 6.318

2. Alport syndrome: a genetic study of 31 families.

Authors: R M'Rad; M Sanak; G Deschenes; J Zhou; C Bonaiti-Pellie; L Holvoet-Vermaut; S Heuertz; M C Gubler; M Broyer; J P Grunfeld
Journal: Hum Genet Date: 1992-12 Impact factor: 4.132

3. Alport syndrome caused by inversion of a 21 Mb fragment of the long arm of the X-chromosome comprising exon 9 through 51 of the COL4A5 gene.

Authors: Jens Michael Hertz; Ulf Persson; Inger Juncker; Mårten Segelmark
Journal: Hum Genet Date: 2005-10-28 Impact factor: 4.132

4. Improving mutation screening in familial hematuric nephropathies through next generation sequencing.

Authors: Vincent Morinière; Karin Dahan; Pascale Hilbert; Marieline Lison; Said Lebbah; Alexandra Topa; Christine Bole-Feysot; Solenn Pruvost; Patrick Nitschke; Emmanuelle Plaisier; Bertrand Knebelmann; Marie-Alice Macher; Laure-Hélène Noel; Marie-Claire Gubler; Corinne Antignac; Laurence Heidet
Journal: J Am Soc Nephrol Date: 2014-05-22 Impact factor: 10.121

5. Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13.

Authors: A Toren; N Amariglio; G Rozenfeld-Granot; A J Simon; F Brok-Simoni; E Pras; G Rechavi
Journal: Am J Hum Genet Date: 1999-12 Impact factor: 11.025

Major rearrangements in the alpha 5(IV) collagen gene in three patients with Alport syndrome.

1. The molecular genetics of Alport syndrome: report of two workshops.

2. Alport syndrome: a genetic study of 31 families.

3. Alport syndrome caused by inversion of a 21 Mb fragment of the long arm of the X-chromosome comprising exon 9 through 51 of the COL4A5 gene.

4. Improving mutation screening in familial hematuric nephropathies through next generation sequencing.

5. Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13.

6. Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome.

7. Persistent microscopic haematuria without proteinuria.

8. Genetic aspects of renal dysfunction: Alport's syndrome.

9. X inactivation patterns in females with Alport's syndrome: a means of selecting against a deleterious gene?

Review 10. Mild phenotypic manifestation of a 7p15.3p21.2 deletion.