Large Deletions
Schematic drawing of the NDP gene and the Norrin protein:
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 |
| 1-3 | entire NDP deletion, as well as MAOA and MAOB; 494.1 kb | ND, progressive dyspnea, pulmonary hypertension, sudden death | Staropoli, 2010 |
| 1-3 | entire NDP deletion, as well as MAOA , MAOB and EFHC2; appr. 1 Mb | ND, psychomotor retardation, myoclonic epilepsy | Rodriguez-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 |
| 2 | partial NDP deletion | ND | Halpin, 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.
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Large Deletions
Exon and intron 1 and 2 mutations
Exon 3 mutations
Abbreviations:
kb = kilobases
MAOA = Monoamine Oxidase A
MAOB = Monoamine Oxidase B
Mb = Megabases
ND = Norrie Disease
NDP = Norrie Disease Pseudoglioma Gene