caa a22 4500 397575254 CHVBK 20180308164854.0 cr unu---uuuuu 161202e199603 xx s 000 0 eng 10.1093/hmg/5.3.367 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.3.367 Large Homozygous Deletions of the 2q13 Region Are a Major Cause of Juvenile Nephronophthisis [Elektronische Daten] [Martin Konrad, Sophie Saunier, Laurence Heidet, Flora Silbermann, France Benessy, Joaquim Calado, Denis Le Paslier, Michel Broyer, Marie-Claire Gubler, Corinne Antignac] Juvenile nephronophthisis (NPH) is a genetically heterogeneous disorder representing the most frequent inherited cause of chronic renal failure in children. We recently assigned a gene (NPH1) to the 2q13 region which is responsible for approximately 85% of cases. Cloning this region in a yeast artificial chromosome contig revealed the presence of low copy repeats. Large-scale rearrangements were detected in 80% of the patients belonging to inbred or multiplex NPH1 families and in 65% of the sporadic cases. Surprisingly, these rearrangements seem to be, in most cases, large homozygous deletions of approximately 250 kb involving an 100 kb inverted duplication. This suggests a common genetic disease-causing mechanism, which could be responsible for the highest frequency of large rearrangements reported in an autosomal recessive trait. Our findings are also of major clinical interest, as they permit the diagnosis in the majority of sporadic cases without the need for kidney biopsy. © 1996 Oxford University Press Konrad Martin INSERM U 423, Hôpital Necker-Enfant Malades, 75743 Paris Cedex 15, France aut Saunier Sophie INSERM U 423, Hôpital Necker-Enfant Malades, 75743 Paris Cedex 15, France aut Heidet Laurence INSERM U 423, Hôpital Necker-Enfant Malades, 75743 Paris Cedex 15, France aut Silbermann Flora INSERM U 423, Hôpital Necker-Enfant Malades, 75743 Paris Cedex 15, France aut Benessy France INSERM U 423, Hôpital Necker-Enfant Malades, 75743 Paris Cedex 15, France aut Calado Joaquim INSERM U 423, Hôpital Necker-Enfant Malades, 75743 Paris Cedex 15, France aut Le Paslier Denis CEPH,, 27 rue Juliette Dodu, 75010 Paris, France aut Broyer Michel Service de Néphrologie, Hôpital Necker-Enfants Malades, Université René Descartes, 75743 Paris Cedex 15, France aut Gubler Marie-Claire INSERM U 423, Hôpital Necker-Enfant Malades, 75743 Paris Cedex 15, France aut Antignac Corinne INSERM U 423, Hôpital Necker-Enfant Malades, 75743 Paris Cedex 15, France aut Human Molecular Genetics Oxford University Press 5/3(1996-03), 367-371 0964-6906 5:3<367 1996 5 hmg https://doi.org/10.1093/hmg/5.3.367 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.3.367 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Konrad Martin INSERM U 423, Hôpital Necker-Enfant Malades, 75743 Paris Cedex 15, France aut NATIONALLICENCE 700 1- Saunier Sophie INSERM U 423, Hôpital Necker-Enfant Malades, 75743 Paris Cedex 15, France aut NATIONALLICENCE 700 1- Heidet Laurence INSERM U 423, Hôpital Necker-Enfant Malades, 75743 Paris Cedex 15, France aut NATIONALLICENCE 700 1- Silbermann Flora INSERM U 423, Hôpital Necker-Enfant Malades, 75743 Paris Cedex 15, France aut NATIONALLICENCE 700 1- Benessy France INSERM U 423, Hôpital Necker-Enfant Malades, 75743 Paris Cedex 15, France aut NATIONALLICENCE 700 1- Calado Joaquim INSERM U 423, Hôpital Necker-Enfant Malades, 75743 Paris Cedex 15, France aut NATIONALLICENCE 700 1- Le Paslier Denis CEPH,, 27 rue Juliette Dodu, 75010 Paris, France aut NATIONALLICENCE 700 1- Broyer Michel Service de Néphrologie, Hôpital Necker-Enfants Malades, Université René Descartes, 75743 Paris Cedex 15, France aut NATIONALLICENCE 700 1- Gubler Marie-Claire INSERM U 423, Hôpital Necker-Enfant Malades, 75743 Paris Cedex 15, France aut NATIONALLICENCE 700 1- Antignac Corinne INSERM U 423, Hôpital Necker-Enfant Malades, 75743 Paris Cedex 15, France aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/3(1996-03), 367-371 0964-6906 5:3<367 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford