Large Deletions

Schematic drawing of the NDP gene and the Norrin protein:
 

NDP_gene

 

Mutations have been compiled from the literature (Pubmed database entries, meeting abstracts, etc.) by:
Nikolaus Schäfer and Wolfgang Berger.

Exon(s) Mutation on DNA Level Phenotype References*
1-3 entire NDP deletion, as well as part of MAOB, 150 kb ND Berger, 1992
1-3 entire NDP deletion, as well as MAOA and MAOB; 2-2.5 Mb ND Suarez-Merino, 2001
1-3entire NDP deletion, as well as MAOA and MAOB; 494.1 kbND, progressive dyspnea, pulmonary hypertension, sudden deathStaropoli, 2010
1-3entire NDP deletion, as well as MAOA , MAOB and EFHC2; appr. 1 MbND, psychomotor retardation, myoclonic epilepsyRodriguez-Revenga, 2007
2-3 partial NDP deletion, deletion of MAOA and MAOB, 340 kb ND Berger, 1992
2-3 partial NDP deletion, 15-20 kb ND Berger, 1992
2-3 partial NDP deletion ND Schuback, 1995
1 partial NDP deletion, 8-15 kb ND Berger, 1992
2 partial NDP deletion, 2-4 kb ND Berger, 1992
2 partial NDP deletion, 4kb ND Chen, 1993
2 partial NDP deletion, 5kb ND Chen, 1993
2 partial NDP deletion, 2-10kb ND Chen, 1993
2 partial NDP deletion ND Schuback, 1995
2partial NDP deletionNDHalpin, 2008
3 partial NDP deletion; MAOA and MAOB del >20kb ND Chen, 1993
3 partial NDP deletion; part of exon 3; 7 kb ND Chen, 1993
3 partial NDP deletion ND Schuback, 1995
3 partial NDP deletion ND Schuback, 1995
3 partial NDP deletion; 3'-UTR of exon 3 inclusive PAS ND Rivera-Vega, 2005
4 different deletions (complete, partial, 4bp and single) ND Zhu, 1994
Xp11.4invq22 ND Pettenati, 1993

* Most of the cited references have multiple authors. For lack of space, we only included the last name of the first authors of the respective publications.

Abbreviations:

kb = kilobases
MAOA = Monoamine Oxidase A
MAOB = Monoamine Oxidase B
Mb = Megabases
ND = Norrie Disease
NDP = Norrie Disease Pseudoglioma Gene