Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Senior-Loken-Syndrom

Senior-Loken-Syndrom ist eine autosomal rezessive Erkrankung mit Nephronophthiese und einer Leberschen Amaurose. Verschiedene Unterformen werden entsprechend der ursächlichen Gene unterschieden.

Symptome

Retinadystrophie
Die Lebersche kongenitale Amaurose ist ein typisches Symptom des Senior-Loken-Syndroms.

Gliederung

Komplex medullärer Zystennierenerkrankungen
Medulläre Nierenzysten
Nephronophthise
Senior-Loken-Syndrom
Senior-Loken-Syndrom 1
NPHP1
Senior-Loken-Syndrom 3
NPHP3
Senior-Loken-Syndrom 4
NPHP4
Senior-Loken-Syndrom 5
IQCB1
Senior-Loken-Syndrom 6
CEP290
Senior-Loken-Syndrom 7
SDCCAG8
Senior-Loken-Syndrom 8
WDR19
Senior-Loken-Syndrom 9
TRAF3IP1
Ziliopathie

Referenzen:

1.

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

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2.

Otto EA et. al. (2010) Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.

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3.

Godel V et. al. (1979) Retinal manifestations in familial juvenile nephronophthisis.

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4.

Diekmann L et. al. (1977) [Familial nephropathy with retinitis pigmentosa and peripheral dysostosis].

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5.

Avasthi PS et. al. (1976) Hereditary renal-retinal dysplasia and the medullary cystic disease-nephronophthisis complex.

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6.

Hogewind BL et. al. (1977) Electro-rentinal abnormalities in heterozygotes of renal-retinal dysplasia.

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7.

Proesmans W et. al. (1975) Nephronophthisis and tapetoretinal degeneration associated with liver fibrosis.

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8.

Clarke MP et. al. (1992) Senior-Loken syndrome. Case reports of two siblings and association with sensorineural deafness.

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9.

Schuman JS et. al. (1985) Senior-Loken syndrome (familial renal-retinal dystrophy) and Coats' disease.

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10.

Boichis H et. al. (1973) Congenital hepatic fibrosis and nephronophthisis. A family study.

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11.

None (1969) Familial occurrence of congenital retinal blindness and developmental renal lesions.

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12.

Fontaine JL et. al. (1970) [Tubulo-interstitial nephropathy in children with tapeto-retinal degeneration (Senior's syndrome. (1 case)].

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13.

Bois E et. al. (1970) [Association of chronic tubulo-interstitial nephropathy and of tapeto-retinal degeneration. Genetic study].

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14.

None (1969) Hereditary renal-retinal dysplasia.

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15.

Mendley SR et. al. (1995) Hereditary sclerosing glomerulopathy in the conorenal syndrome.

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16.

Antignac C et. al. (1993) A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p.

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17.

Warady BA et. al. (1994) Senior-Loken syndrome: revisited.

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18.

Caridi G et. al. (1998) Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus.

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19.

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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20.

Omran H et. al. (2002) Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene.

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21.

Schuermann MJ et. al. (2002) Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36.

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22.

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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23.

Olbrich H et. al. (2003) Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.

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24.

LOKEN AC et. al. (1961) Hereditary renal dysplasia and blindness.

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25.

SENIOR B et. al. (1961) Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy.

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26.

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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27.

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

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28.

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

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29.

Omori Y et. al. (2008) Elipsa is an early determinant of ciliogenesis that links the IFT particle to membrane-associated small GTPase Rab8.

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30.

Fairley KF et. al. (1963) Familial Visual Defects Associated with Polycystic Kidney and Medullary Sponge Kidney.

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31.

Berbari NF et. al. (2011) Mutations in Traf3ip1 reveal defects in ciliogenesis, embryonic development, and altered cell size regulation.

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32.

Bizet AA et. al. (2015) Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.

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33.

Halbritter J et. al. (2013) Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

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34.

Coussa RG et. al. (2013) WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.

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35.

Stone EM et al. (2011) Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.

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36.

Estrada-Cuzcano A et. al. (2011) IQCB1 mutations in patients with leber congenital amaurosis.

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37.

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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