Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

Matthew Bower, Rémi Salomon, Judith Allanson, Corinne Antignac, Francesco Benedicenti, Elisa Benetti, Gil Binenbaum, Uffe B. Jensen, Pierre Cochat, Stephane Decramer, Joanne Dixon, Regen Drouin, Marni J. Falk, Holly Feret, Robert Gise, Alasdair Hunter, Kisha Johnson, Rajiv Kumar, Marie Pierre Lavocat, Laura MartinVincent Morinière, David Mowat, Luisa Murer, Hiep T. Nguyen, Gabriela Peretz-Amit, Eric Pierce, Emily Place, Nancy Rodig, Ann Salerno, Sujatha Sastry, Tadashi Sato, John A. Sayer, Gerard C.P. Schaafsma, Lawrence Shoemaker, David W. Stockton, Wen Hann Tan, Romano Tenconi, Philippe Vanhille, Abhay Vats, Xinjing Wang, Berta Warman, Richard G. Weleber, Susan M. White, Carolyn Wilson-Brackett, Dina J. Zand, Michael Eccles, Lisa A. Schimmenti, Laurence Heidet

Research output: Contribution to journalArticlepeer-review

109 Scopus citations


Renal coloboma syndrome, also known as papillorenal syndrome is an autosomal-dominant disorder characterized by ocular and renal malformations. Mutations in the paired-box gene, PAX2, have been identified in approximately half of individuals with classic findings of renal hypoplasia/dysplasia and abnormalities of the optic nerve. Prior to 2011, there was no actively maintained locus-specific database (LSDB) cataloguing the extent of genetic variation in the PAX2 gene and phenotypic variation in individuals with renal coloboma syndrome. Review of published cases and the collective diagnostic experience of three laboratories in the United States, France, and New Zealand identified 55 unique mutations in 173 individuals from 86 families. The three clinical laboratories participating in this collaboration contributed 28 novel variations in 68 individuals in 33 families, which represent a 50% increase in the number of variations, patients, and families published in the medical literature. An LSDB was created using the Leiden Open Variation Database platform: www.lovd.nl/PAX2. The most common findings reported in this series were abnormal renal structure or function (92% of individuals), ophthalmological abnormalities (77% of individuals), and hearing loss (7% of individuals). Additional clinical findings and genetic counseling implications are discussed.

Original languageEnglish (US)
Pages (from-to)457-466
Number of pages10
JournalHuman mutation
Issue number3
StatePublished - Mar 2012


  • PAX2
  • Papillorenal syndrome
  • Renal coloboma syndrome


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