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

Bower, Matthew ; Salomon, Rémi ; Allanson, Judith ; Antignac, Corinne ; Benedicenti, Francesco ; Benetti, Elisa ; Binenbaum, Gil ; Jensen, Uffe B ; Cochat, Pierre and DeCramer, Stephane , et al. (2012) In Human Mutation 33(3). p.66-457
Abstract

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.... (More)

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.

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publication status
published
subject
keywords
Animals, Coloboma/genetics, Databases, Genetic, Humans, PAX2 Transcription Factor/genetics, Renal Insufficiency/genetics, Vesico-Ureteral Reflux/genetics
in
Human Mutation
volume
33
issue
3
pages
66 - 457
publisher
John Wiley & Sons
external identifiers
  • scopus:84862776726
  • pmid:22213154
ISSN
1059-7794
DOI
10.1002/humu.22020
language
English
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no
id
d870f288-24f1-418e-bcb4-8ace61b0505d
date added to LUP
2018-12-12 14:18:07
date last changed
2020-02-12 09:47:57
@article{d870f288-24f1-418e-bcb4-8ace61b0505d,
  abstract     = {<p>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.</p>},
  author       = {Bower, Matthew and Salomon, Rémi and Allanson, Judith and Antignac, Corinne and Benedicenti, Francesco and Benetti, Elisa and Binenbaum, Gil and Jensen, Uffe B and Cochat, Pierre and DeCramer, Stephane and Dixon, Joanne and Drouin, Regen and Falk, Marni J and Feret, Holly and Gise, Robert and Hunter, Alasdair and Johnson, Kisha and Kumar, Rajiv and Lavocat, Marie Pierre and Martin, Laura and Morinière, Vincent and Mowat, David and Murer, Luisa and Nguyen, Hiep T and Peretz-Amit, Gabriela and Pierce, Eric and Place, Emily and Rodig, Nancy and Salerno, Ann and Sastry, Sujatha and Sato, Tadashi and Sayer, John A and Schaafsma, Gerard C P and Shoemaker, Lawrence and Stockton, David W and Tan, Wen-Hann and Tenconi, Romano and Vanhille, Philippe and Vats, Abhay and Wang, Xinjing and Warman, Berta and Weleber, Richard G and White, Susan M and Wilson-Brackett, Carolyn and Zand, Dina J and Eccles, Michael and Schimmenti, Lisa A and Heidet, Laurence},
  issn         = {1059-7794},
  language     = {eng},
  number       = {3},
  pages        = {66--457},
  publisher    = {John Wiley & Sons},
  series       = {Human Mutation},
  title        = {Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database},
  url          = {http://dx.doi.org/10.1002/humu.22020},
  doi          = {10.1002/humu.22020},
  volume       = {33},
  year         = {2012},
}