Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Lebersche kongenitale Amaurose

Die Lebersche kongenitale Amaurose ist eine erbliche Erkrankung, die allein und auch in verschiedenen Syndromen vorkommt. Sie besteht in einer Funktionsstörung der Retina und einer Degeneration der Aderhaut.

Symptome

Retinadystrophie
Lebersche kongenitale Amaurose ist die schwerste frühzeitig einsetzende Form der Retinadystrophie.

Gliederung

Ziliopathie
COACH-Syndrom
Joubert-Syndrom
Lebersche kongenitale Amaurose
Lebersche kongenitale Amaurose 01
GUCY2D
Lebersche kongenitale Amaurose 02
RPE65
Lebersche kongenitale Amaurose 03
SPATA7
Lebersche kongenitale Amaurose 04
AIPL1
Lebersche kongenitale Amaurose 05
LCA5
Lebersche kongenitale Amaurose 06
RPGRIP1
Lebersche kongenitale Amaurose 07
CRX
Lebersche kongenitale Amaurose 08
CRB1
Lebersche kongenitale Amaurose 09
NMNAT1
Lebersche kongenitale Amaurose 10
CEP290
Lebersche kongenitale Amaurose 11
IMPDH1
Lebersche kongenitale Amaurose 12
RD3
Lebersche kongenitale Amaurose 13
RDH12
Lebersche kongenitale Amaurose 14
LRAT
Lebersche kongenitale Amaurose 15
TULP1
Lebersche kongenitale Amaurose 16
KCNJ13
Lebersche kongenitale Amaurose 17
GDF6
Lebersche kongenitale Amaurose 18
PRPH2
Malformationen der Rechts-Links-Achse
Meckel-Syndrom
Nephronophthise
Primäre ziliäre Dyskinesie 3 mit oder ohne Situs inversus
SRTD-Syndrom (Short-rib thoracic dysplasia) 10
SRTD-Syndrom (Short-rib thoracic dysplasia) 9
Senior-Loken-Syndrom

Referenzen:

1.

Camuzat A et. al. (1995) A gene for Leber's congenital amaurosis maps to chromosome 17p.

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2.

Camuzat A et. al. (1996) Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13.

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3.

Perrault I et. al. (1996) Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.

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4.

Hanein S et. al. (2002) Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin.

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5.

Khan AO et. al. (2014) Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.

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6.

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7.

Sohocki MM et. al. (2000) Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.

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8.

Tan MH et. al. (2009) Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors.

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9.

Khanna H et. al. (2009) A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

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10.

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11.

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12.

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19.

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21.

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24.

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26.

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27.

Ling L et. al. (2000) MIP-T3, a novel protein linking tumor necrosis factor receptor-associated factor 3 to the microtubule network.

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30.

Otto E et. al. (2002) A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.

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31.

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32.

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34.

Otto EA et. al. (2005) Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.

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35.

None (1924) The Inheritance of a Retinal Abnormality in White Mice.

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36.

Sayer JA et. al. (2006) The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.

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37.

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38.

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39.

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40.

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41.

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42.

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43.

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44.

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45.

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46.

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47.

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48.

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49.

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50.

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51.

None (1968) Leber's congenital tapetoretinal degeneration.

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52.

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53.

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54.

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55.

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56.

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57.

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58.

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59.

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60.

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61.

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62.

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63.

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64.

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65.

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66.

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67.

Wang X et. al. (2011) Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.

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