Papillorenal syndrome is an autosomal dominant disorder caused by mutations of the PAX2 gene. It is characterized by ocular (coloboma) and renal (hypoplasia) malformations. Typical features also include esicoureteral reflux, high frequency hearing loss, central nervous system anomalies, and genital malformations.
|Congenital abnormalities of the kidney and urinary tract|
|Aplasia of lacrimal and salivary glands|
|Autosomal dominant Robinow syndrome 1|
|Autosomal recessive Robinow syndrome|
|Brain malformations with urinary tract defects|
|Congenital anomalies of kidney and urinary tract 1|
|Congenital anomalies of kidney and urinary tract 2|
|Congenital hypogonadotropic hypogonadism with anosmia 1|
|Congenital hypogonadotropic hypogonadism without anosmia 5|
|Renal cysts and diabetes (RCAD)|
|Renal dysplasia with hypopituitarism and diabetes|
|Renal tubular dysgenesis|
|Susceptibility to cystic renal dysplasia|
|Syndromic microphthalmia 6|
Schimmenti LA et al. (1995) Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.
Kerem E et al. (1990) The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).
Rozen R et al. (1990) Cystic fibrosis mutations in North American populations of French ancestry: analysis of Quebec French-Canadian and Louisiana Acadian families.
Green ED et al. (1990) Chromosomal region of the cystic fibrosis gene in yeast artificial chromosomes: a model for human genome mapping.
Guillermit H et al. (1990) A 3' splice site consensus sequence mutation in the cystic fibrosis gene.
Vidaud M et al. (1990) Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis.
Cuppens H et al. (1990) A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew.
Hutt D et al. (2010) Cell Biology. The proteome in balance.
Okiyoneda T et al. (2010) Peripheral protein quality control removes unfolded CFTR from the plasma membrane.
Gasparini P et al. (1991) The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences.
Nelson PV et al. (1991) Identification of a cystic fibrosis mutation: deletion of isoleucine506.
Sanyanusin P et al. (1995) Mutation of PAX2 in two siblings with renal-coloboma syndrome.
Naito T et al. (1989) Nature of renal involvement in the acro-renal-ocular syndrome.
Sanyanusin P et al. (1995) Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.
Weaver RG et al. (1988) Optic nerve coloboma associated with renal disease.
Bower M et al. (2012) Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
Martinovic-Bouriel J et al. (2010) PAX2 mutations in fetal renal hypodysplasia.
Higashide T et al. (2005) Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation.
Chung GW et al. (2001) Renal-coloboma syndrome: report of a novel PAX2 gene mutation.
Nishimoto K et al. (2001) PAX2 gene mutation in a family with isolated renal hypoplasia.
Ford B et al. (2001) Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family.
Amiel J et al. (2000) PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism.
Schimmenti LA et al. (1999) Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.