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Schematic drawing of the NDP gene and the Norrin protein:
Mutations have been compiled from the literature (Pubmed database entries, meeting abstracts, etc.) by:
Wolfgang Berger, Ulrich Luhmann and Nikolaus Schäfer.
| Exon | DNA Level** | Protein Level** | Phenotype | References* |
| 3 | c.179T>A | p.V60E | ND | Meindl, 1992 |
| 3 | c.181C>T | p.L61F | ND, VI | Berger, 1992; Rehm, 1997 |
| 3 | c.181C>A | p.L61I | FEVR | Wu, 2007 |
| 3 | c.182T>C | p.L61P | ND | Schuback, 1995 |
| 3 | c.185T>C | p.L62P | ND | Zhu, 1994 |
| 3 | c.187G>T | p.A63S | ND | Novelli, 1999 |
| 3 | c.188C>A | p.A63D | ND | Schuback, 1995 |
| 3 | c.194G>A | p.C65Y | ND | Strasberg, 1995; Wu, 2007 |
| 3 | c.195C>G | p.C65W | ND | Schuback, 1995 |
| 3 | c.196G>A | p.E66K | PFV (unilateral) | Aponte, 2009 |
| 3 | c.199G>A | p.G67R | ND | Nikopoulos, 2010 |
| 3 | c.200G>A | p.G67E | ND | Nikopoulos, 2010 |
| 3 | c.205del | p.C69AfsX35 | ND | Schuback, 1995 |
| 3 | c.206G>A | p.C69Y | ND | M. Hodiwalla, personal commun. |
| 3 | c.206G>C | p.C69S | ND | Chen, 1993 |
| 3 | c.218C>A | p.S73X | ND | Walker, 1997 |
| 3 | c.220C>T | p.R74C | ND, FEVR | Berger, 1992; Fuchs, 1996; Allen, 2006 |
| 3 | c.223T>C | p.S75P | ND | Yamada, 2001 |
| 3 | c.224C>G | p.S75C | ND | Berger, 1992 |
| 3 | c.226G>T | p.E76X | ND | Hutcheson, 2005 |
| 3 | c.236_240del | p.S80QfsX67 | ND | Riveiro-Alvarez, 2005 |
| 3 | c.267C>A | p.F89L | ND | Nikopoulos, 2010 |
| 3 | c.267_268insCTC | p.F89_R90insL | ND | Hutcheson, 2005 |
| 3 | c.268del | p.R90VfsX14 | ND | Lin, 2010 |
| 3 | c.268C>T | p.R90C | ND | Royer, 2003 |
| 3 | c.269G>C | p.R90P | ND | Berger, 1992 |
| 3 | c.274T>C | p.S92P | ND | Nikopoulos, 2010 |
| 3 | c.282_283ins8 | p.C95MfsX12 | ND | Schuback, 1995 |
| 3 | c.283T>C | p.C95R | ND (severe) | Isashiki, 1995 |
| 3 | c.284G>T | p.C95F | ND (severe) | Khan, 2004 |
| 3 | c.285C>A | p.C95X | ND (severe) | Wu, 2007 |
| 3 | c.287G>A | p.C96Y | ND, EVR (sporadic) | Berger, 1992; Meindl, 1992; Shastry, 1999 |
| 3 | c.288C>G | p.C96W | CD | Black, 1999 |
| 3 | c.290G>C | p.R97P | ND | Rivera-Vega, 2005; Kondo, 2007 |
| 3 | c.291del | p.Q99RfsX5 | ND | Berger, 1992 |
| 3 | c.293C>T | p.P98L | ND | Nikopoulos, 2010 |
| 3 | c.302C>T | p.S101F | ND, PHPV (mild) | Walker, 1997 |
| 3 | c.307C>G | p.L103V | FEVR | Dickinson, 2006 |
| 3 | c.310A>C | p.K104Q | ND (mild) | Meindl, 1995 |
| 3 | c.312G>T | p.K104N | ND | Riveiro-Alvarez, 2006 |
| 3 | c.313G>A | p.A105T | ND | Torrente, 1997 |
| 3 | c.323T>C | p.L108P | ROP (4B/5) | Shastry, 1997 |
| 3 | c.325C>T | p.R109X | ND | Schuback, 1995; Mintz-Hittner, 1996 |
| 3 | c.328T>C | p.C110R | ND | Zhu, 1993; Fuchs, 1996 |
| 3 | c.328T>G | p.C110G | FEVR | Torrente, 1997 |
| 3 | c.328T>A | p.C110S | ND | Berger unpublished |
| 3 | c.330C>A | p.C110X | ND | Berger, 1992 |
| 3 | c.332C>A | p.S111X | ND | Nikopoulos, 2010 |
| 3 | c.333del | p.G113AfsX149 | ND | Hutcheson, 2005 |
| 3 | c.335G>A | p.G112E | FEVR (highly variable) | Allen, 2006 |
| 3 | c.343C>T | p.R115X | ND, psychomotor retardation, epilepsy | Liu, 2010 |
| 3 | c.344G>T | p.R115L | FEVR | Kondo, 2007 |
| 3 | c.353C>A | p.A118D | ND | Shastry, 1999 |
| 3 | c.359A>G | p.Y120C | EVR (sporadic) | Shastry, 1997 |
| 3 | c.360C>A | p.Y120X | ND | Riveiro-Alvarez, 2005 |
| 3 | c.360_368del | p.R121_I123del | ND | Schuback, 1995 |
| 3 | c.361C>G | p.R121G | ND, PRDX | Zhu, 1994 |
| 3 | c.361C>T | p.R121W | ND, ND (mild), FEVR, ROP | Meindl, 1995; Shastry, 1995; Kellner, 1996; Shastry, 1997; Wu, 2007 |
| 3 | c.362G>A | p.R121Q | ND, ND (mild), FEVR | Fuentes, 1993; Meindl, 1995; Riveiro-Alvarez, 2005; Boonstra, 2009 |
| 3 | p.362G>T | p.R121L | FEVR (highly variable) | Johnson, 1996; Mintz-Hittner, 1996 |
| 3 | c.368T>A | p.I123N | ND | Schuback, 1995 |
| 3 | c.370C>T | p.L124F | FEVR | Chen, 1993 |
| 3 | c.377G>C | p.C126S | ND | Gal, 1996 |
| 3 | c.378T>A | p.C126X | ND | Fuchs, 1996; Keller, 1996 |
| 3 | c.382T>C | p.C128R | ND | Royer, 2003 |
| 3 | c.383_384del | p.C128X | ND | Wong, 1993; Hutcheson, 2005 |
| 3 | c.384C>A | p.C128X | ND | Schuback, 1995 |
| 3 | c.397del | p.S133PfsX129 | ND | Berger, 1992 |
| 3 | c.399del | p.X134EfsX128 | ND | Riveiro-Alvarez, 2008 |
| 3 | c.*716T>C | p.? | FEVR | Wu, 2007 |
* 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.
** Nomenclature was edited according to recommendations of the Human Genome Variation Society. Please let us know if you realize or recognize any mistranslation.
Large Deletions
Exon and intron 1 and 2 mutations
Exon 3 mutations
CD = Coats Disease
(F)EVR = (Familial) Exudative Vitreoretinopathy
ND = Norrie Disease
PFV = Persistent Fetal Vasculature
PHPV = Primary Hyperplastic Persistent Vitreous
PRDX = Primary Retinal Dysplasia
ROP = Retinopathy Of Prematurity
UTR = Untranslated Region
VI = Venous Insufficiency
