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J Am Soc Nephrol 12:97-106, 2001
© 2001 American Society of Nephrology

Structure of the Human Type IV Collagen Gene COL4A3 and Mutations in Autosomal Alport Syndrome

LAURENCE HEIDET*, CHRISTELLE ARRONDEL*, LIONEL FORESTIER*, LOLA COHEN-SOLAL*, GERALDINE MOLLET*, BRUNO GUTIERREZ*, CHRISTOPHOROS STAVROU{dagger}, MARIE CLAIRE GUBLER* and CORINNE ANTIGNAC*

* INSERM U423, Université René Descartes, Hôpital Necker-Enfants Malades, Paris, France
{dagger} Renal Unit, Paphos General Hospital, Paphos, Cyprus.

Correspondence to Dr. Corinne Antignac, INSERM U423-Tour Lavoisier 6eme étage, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France. Phone: 33 1 44 49 50 98; Fax: 33 1 44 49 02 90; E-mail: antignac{at}necker.fr

Abstract. Mutations in either the COL4A3 or the COL4A4 genes, encoding the {alpha}3 and {alpha}4 chains of type IV collagen, are responsible for the autosomal-recessive form of Alport syndrome, a progressive hematuric nephropathy characterized by glomerular basement membrane abnormalities. Reported here are the complete COL4A3 exon-intron structure and a comprehensive screen for mutations of the 52 COL4A3 exons in 41 unrelated patients diagnosed as having autosomal Alport syndrome. This resulted in the identification of 21 mutations that are expected to be causative. Furthermore, it is shown that heterozygous COL4A3 missense mutations, when symptomatic, can be associated with a broad range of phenotypes, from familial benign hematuria to the complete features of Alport syndrome nephropathy.




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