 | näkö- ja kuulovammaisuus, sukuelinten poikkeavuudet, kehitysvammaisuus
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Norrien tauti
Anderson-Warburgin oireyhtymä
Oligofrenia mikropthalmus
Whitnall-Normannin oireyhtymä
Pseudogliooma
Episkopin sokeus
Norrien tauti on X-kromosomin (geenikarttamerkintä Xp11.4) kautta
periytyvä sairaus. Sen oireita ovat näkö- ja kuulovammaisuus, sukuelinten poikkeavuudet ja
kehitysvammaisuus.
Silmäoireisiin kuuluvat silmän iiriksen surkastuminen ja ennenaikainen vanheneminen, valekasvain (
pseudogliooma) ja nauhamainen sarveiskalvon surkastuminen sekä harmaakaihi (ks.
Petersin anomalia). Vammautuneen pää on pienikokoinen. Kuulovamma kehittyy myähemmällä iällä. Sukurauhasten alikehittyneisyys ja piilokivekset ovat tyypillisiä. Kehitysvammaisuuden taso vaihtelee.
Episkopin sokeudeksikin nimitetty sairaus on tunnettu jo vuosisatojen ajan kyproslaisen Episkopin kylän vitsauksena. Sairautta on tavattu kuitenkin kutakuinkin kaikkialla maailmassa.
Sairaudesta tunnetaan useita muunnelmia. Niiden aiheuttajana on geenivirheisiin perustuva proteiinituotannon häiriö, joka vaurioittaa hermosolujen erikoistumiskehityksen. Joissakin lääketieteellisissä tutkimuksissa on viitattu hermosolujen kehityksen häiriintymiseen jo varhaisessa sikiäaikaisen hermostokehityksen vaiheessa.
Lisätietoja:
Uusi NDP-geenin missense-mutaatio kiinalaisessa Norrie-suvussa (lyhyt seloste) - Liu D, Hu Z, Peng Y, Yu C, Liu Y, Mo X, Li X, Lu L, Xu X, Su W, Pan Q, Xia K - Mol Vis. 2010 Dec 8;16:2653-8
Uusi pistemutaatio Norrie-lapsen NDP-geenissä ja infantiilispasmit (abstrakti) Lev D, Weigl Y, Hasan M, Gak E, Davidovich M, Vinkler C, Leshinsky-Silver E, Lerman-Sagie T, Watemberg N; American journal of medical genetics. Part A 2007 Mar 2
NORRIE DISEASE; NDP - OMIM, Victor A. McKusick, Stylianos E. Antonarakis et al.
Norrie Syndrome - NORD
Norrie syndrome, Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes, Stanley Jablonski 1999
Norrie Syndrome, Eye Disease and Related Support Groups
Norrie disease - Max Planck Institute for Molecular Genetics
X-LINKED FEVR A MUTATION OF Norrie Disease - Genetic Testing, FEVR.NET
Causes of blindness in children - Norrie G, Acta Ophth (Copenhagen), 1927, 5:363-4
Nogle Blindhedsaarsager: en oversigt, Norrie G, Hospitalstidende 76: 141-147, 1933
NDP-Related Retinopathies - GeneReviews, Katherine B Sims
Norrie Disease Protein (Norrin) Forms Disulfide-linked Oligomers Associated with the Extracellular Matrix - Juan Perez-Vilar and Robert L. Hill, JBC 1997
A fetus with an X;1 balanced reciprocal translocation and eye disease - MJ Seller et al, Journal of Medical Genetics, 1995
Norrie's disease: a prospective study of development - HM Goodyear et al, Archives of Disease in Childhood 1989
BENCHMARK analysis of norrie disease, G2D
GeneCard for gene NDP
Norrie's disease (www.whonamedit.com)
A
presumptive new variant of Norrie's disease - Moreira-Filho CA, Neustein I, J Med
Genet. 1979 Apr;16(2):125-8 - PubMed
Close
linkage between Norrie disease, a cloned DNA sequence from the proximal short
arm, and the centromere of the X chromosome - Bleeker-Wagemakers LM, Friedrich U,
Gal A, Wienker TF, Warburg M, Ropers HH, Hum Genet. 1985;71(3):211-4 - PubMed
Norrie
disease caused by a gene deletion allowing carrier detection and prenatal
diagnosis - de la Chapelle A, Sankila EM, Lindlof M, Aula P, Norio R, Clin Genet.
1985 Oct;28(4):317-20 - PubMed
Submicroscopic
interstitial deletion of the X chromosome explains a complex genetic syndrome
dominated by Norrie disease - Gal A, Wieringa B, Smeets DF, Bleeker-Wagemakers L,
Ropers HH, Cytogenet Cell Genet. 1986;42(4):219-24 - PubMed
Primary
vitreoretinal dysplasia resembling Norrie's disease in a female: association
with X autosome chromosomal translocation - Ohba N, Yamashita T, Br J Ophthalmol.
1986 Jan;70(1):64-71 - PubMed
Probably
Norrie's disease due to mutation. Two sporadic sibships of two males each, a
necropsy of one case, and, given Norrie's disease, a calculation of the gene
mutation frequency - Phillips CI, Newton M, Duvall J, Holloway S, Levy AM, Br J
Ophthalmol. 1986 Apr;70(4):305-13 - PubMed
Further
linkage data on Norrie disease - Kivlin JD, Sanborn GE, Wright E, Cannon L, Carey
J, Am J Med Genet. 1987 Mar;26(3):733-6 - PubMed
Norrie's
disease in an Asian family - Harendra de Silva DG, de Silva DB, Br J Ophthalmol.
1988 Jan;72(1):62-4 - PubMed
Norrie
disease resulting from a gene deletion: clinical features and DNA studies -
Donnai D, Mountford RC, Read AP, J Med Genet. 1988 Feb;25(2):73-8 - PubMed
Recombinational
event between Norrie disease and DXS7 loci - Ngo JT, Spence MA, Cortessis V,
Sparkes RS, Bateman JB, Clin Genet. 1988 Jul;34(1):43-7 - PubMed
First
demonstration of recombination between the gene for Norrie disease and probe
L1.28 - Katayama S, Wohlferd M, Golbus MS, Am J Med Genet. 1988 Aug;30(4):967-70
- PubMed
Norrie
disease gene is distinct from the monoamine oxidase genes - Sims KB, Ozelius L,
Corey T, Rinehart WB, Liberfarb R, Haines J, Chen WJ, Norio R, Sankila E, de la
Chapelle A, et al, Am J Hum Genet. 1989 Sep;45(3):424-34 - PubMed
Clinical,
biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene
syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and
monoamine oxidase (MAOA and MAOB) genes - Collins FA, Murphy DL, Reiss AL, Sims
KB, Lewis JG, Freund L, Karoum F, Zhu D, Maumenee IH, Antonarakis SE, Am J Med
Genet. 1992 Jan 1;42(1):127-34 - PubMed
Localisation
of the gene for Norrie disease to between DXS7 and DXS426 on Xp - Lindsay S,
Thiselton DL, Bateman JB, Ngo JT, Sparkes RS, Coleman M, Davies KE, Bhattacharya
SS, Hum Genet. 1992 Jan;88(3):349-50 - PubMed
Isolation
of a candidate gene for Norrie disease by positional cloning - Berger W, Meindl
A, van de Pol TJ, Cremers FP, Ropers HH, Doerner C, Monaco A, Bergen AA, Lebo R,
Warburg M, et al, Nat Genet. 1992 Jun;1(3):199-203 - PubMed
Norrie
disease is caused by mutations in an extracellular protein resembling C-terminal
globular domain of mucins - Meindl A, Berger W, Meitinger T, van de Pol D, Achatz
H, Dorner C, Haasemann M, Hellebrand H, Gal A, Cremers F, et al, Nat Genet. 1992
Oct;2(2):139-43 - PubMed
Clinical
reinvestigation and linkage analysis in the family with Episkopi blindness
(Norrie disease) - Wolff G, Mayerova A, Wienker TF, Atalianis P, Ioannou P,
Warburg M, J Med Genet. 1992 Nov;29(11):816-9 - PubMed
A
mutation in the Norrie disease gene (NDP) associated with X-linked familial
exudative vitreoretinopathy - Chen ZY, Battinelli EM, Fielder A, Bundey S, Sims
K, Breakefield XO, Craig IW, Nat Genet. 1993 Oct;5(2):180-3 - PubMed
Identification
of a nonsense mutation at codon 128 of the Norrie's disease gene in a male
infant - Wong F, Goldberg MF, Hao Y, Arch Ophthalmol. 1993 Nov;111(11):1553-7 -
PubMed
Molecular
modelling of the Norrie disease protein predicts a cystine knot growth factor
tertiary structure - Meitinger T, Meindl A, Bork P, Rost B, Sander C, Haasemann
M, Murken J, Nat Genet. 1993 Dec;5(4):376-80 - PubMed
Novel
mutation at the initiation codon in the Norrie disease gene in two Japanese
families - Isashiki Y, Ohba N, Yanagita T, Hokita N, Doi N, Nakagawa M, Ozawa M,
Kuroda N, Hum Genet. 1995 Jan;95(1):105-8 - PubMed
Mutations
in the Norrie disease gene - Schuback DE, Chen ZY, Craig IW, Breakefield XO, Sims
KB, Hum Mutat. 1995;5(4):285-92 - PubMed
Identification
of novel missense mutations in the Norrie disease gene associated with one
X-linked and four sporadic cases of familial exudative vitreoretinopathy -
Shastry BS, Hejtmancik JF, Trese MT, Hum Mutat. 1997;9(5):396-401 - PubMed
Vascular
development in the retina and inner ear: control by Norrin and Frizzled-4, a
high-affinity ligand-receptor pair - Xu Q, Wang Y, Dabdoub A, Smallwood PM,
Williams J, Woods C, Kelley MW, Jiang L, Tasman W, Zhang K, Nathans J, Cell.
2004 Mar 19;116(6):883-95 - PubMed
Mikroftalmia; Pienisilmäisyys
X-kromosomin kehitysvammat
Laadittu (Kehitysvammahuollon BBS) 16.1.1998
Kari Viitapohja 31.1.2004, 24.3.2007
