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Renal dysplasia and retinal aplasia(SLSN)

MedGen UID:
96045
•Concept ID:
C0403553
•
Disease or Syndrome
Synonyms: Renal dysplasia retinal aplasia; Senior-Loken syndrome; SLSN
SNOMED CT: Renal dysplasia and retinal aplasia (236531005); Loken Senior syndrome (236531005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Related genes: NPHP4, CEP290, WDR19, TRAF3IP1, SDCCAG8, IQCB1, NPHP1
 
Monarch Initiative: MONDO:0017842
OMIM®: 266900
OMIM® Phenotypic series: PS266900
Orphanet: ORPHA3156

Definition

Senior-Loken syndrome is an autosomal recessive disease with the main features of nephronophthisis (NPHP; see 256100) and Leber congenital amaurosis (see 204000). Mutations in some of the same genes that cause nephronophthisis (see 256100) cause Senior-Loken syndrome. Genetic Heterogeneity of Senior-Loken Syndrome Other forms of SLSN include SLSN4 (606996), caused by mutation in the NPHP4 gene (607215) on chromosome 1p36; SLSN5 (609254), caused by mutation in the NPHP5 gene (IQCB1; 609237) on chromosome 3q13; SLSN6 (610189), caused by mutation in the NPHP6 gene (CEP290; 610142) on chromosome 12q21; SLSN7 (613615), caused by mutation in the SDCCAG8 gene (613524) on chromosome 1q43; SLSN8 (616307), caused by mutation in the WDR19 gene (608151) on chromosome 4p14; and SLSN9 (616629), caused by mutation in the TRAF3IP1 gene (607380) on chromosome 2q37. Another form of SLSN, SLSN3 (606995), has been mapped to a locus on chromosome 3q22, overlapping the NPHP3 locus (604387). [from OMIM]

Professional guidelines

PubMed

A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project).
Leggatt G, Cheng G, Narain S, Briseño-Roa L, Annereau JP; Genomics England Research Consortium, Gast C, Gilbert RD, Ennis S
Sci Rep 2023 Jun 9;13(1):9369. doi: 10.1038/s41598-023-32169-4. PMID: 37296294Free PMC Article
Meckel syndrome: genetics, perinatal findings, and differential diagnosis.
Chen CP
Taiwan J Obstet Gynecol 2007 Mar;46(1):9-14. doi: 10.1016/S1028-4559(08)60100-X. PMID: 17389183
Leber congenital amaurosis--differential diagnosis, ophthalmological and neuroradiological report of 18 patients.
Casteels I, Spileers W, Demaerel P, Casaer P, De Cock P, Dralands L, Missotten L
Neuropediatrics 1996 Aug;27(4):189-93. doi: 10.1055/s-2007-973785. PMID: 8892367

Recent clinical studies

Etiology

Ciliopathies and the Kidney: A Review.
McConnachie DJ, Stow JL, Mallett AJ
Am J Kidney Dis 2021 Mar;77(3):410-419. Epub 2020 Oct 9 doi: 10.1053/j.ajkd.2020.08.012. PMID: 33039432
CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
Coppieters F, Lefever S, Leroy BP, De Baere E
Hum Mutat 2010 Oct;31(10):1097-108. doi: 10.1002/humu.21337. PMID: 20690115
Expanding CEP290 mutational spectrum in ciliopathies.
Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM; International JSRD Study Group, Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Del Giudice E, Laverda AM, Ludwig K, Permunian A, Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Parisi P, Pollazzon M, Silengo M, De Vescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al-Tawari AA, Bastaki L, Mégarbané A, Sabolic Avramovska V, de Jong MM, Stromme P, Koul R, Rajab A, Azam M, Barbot C, Martorell Sampol L, Rodriguez B, Pascual-Castroviejo I, Teber S, Anlar B, Comu S, Karaca E, Kayserili H, Yüksel A, Akcakus M, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Hennekam R, Lees M, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Dobyns WB, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Swoboda KJ, Viskochil D
Am J Med Genet A 2009 Oct;149A(10):2173-80. doi: 10.1002/ajmg.a.33025. PMID: 19764032Free PMC Article
Familial juvenile nephronophthisis.
Konrad M, Saunier S, Calado J, Gubler MC, Broyer M, Antignac C
J Mol Med (Berl) 1998 Apr;76(5):310-6. doi: 10.1007/s001090050222. PMID: 9587065
Leber congenital amaurosis--differential diagnosis, ophthalmological and neuroradiological report of 18 patients.
Casteels I, Spileers W, Demaerel P, Casaer P, De Cock P, Dralands L, Missotten L
Neuropediatrics 1996 Aug;27(4):189-93. doi: 10.1055/s-2007-973785. PMID: 8892367

Diagnosis

Threatening drug-drug interaction in a kidney transplant patient with coronavirus disease 2019 (COVID-19).
Bartiromo M, Borchi B, Botta A, Bagalà A, Lugli G, Tilli M, Cavallo A, Xhaferi B, Cutruzzulà R, Vaglio A, Bresci S, Larti A, Bartoloni A, Cirami C
Transpl Infect Dis 2020 Aug;22(4):e13286. Epub 2020 Jul 14 doi: 10.1111/tid.13286. PMID: 32279418Free PMC Article
Fundus Examination Pointing to the Diagnosis of Senior-Loken Syndrome.
Sergouniotis PI, Hadfield KD, Black GC
JAMA Ophthalmol 2016 Aug 11;134(8):e161299. doi: 10.1001/jamaophthalmol.2016.1299. PMID: 27548298
Nephronophthisis.
Simms RJ, Eley L, Sayer JA
Eur J Hum Genet 2009 Apr;17(4):406-16. Epub 2008 Dec 10 doi: 10.1038/ejhg.2008.238. PMID: 19066617Free PMC Article
Familial juvenile nephronophthisis.
Konrad M, Saunier S, Calado J, Gubler MC, Broyer M, Antignac C
J Mol Med (Berl) 1998 Apr;76(5):310-6. doi: 10.1007/s001090050222. PMID: 9587065
Leber's congenital amaurosis.
De Laey JJ
Bull Soc Belge Ophtalmol 1991;241:41-50. PMID: 1840995

Therapy

Threatening drug-drug interaction in a kidney transplant patient with coronavirus disease 2019 (COVID-19).
Bartiromo M, Borchi B, Botta A, Bagalà A, Lugli G, Tilli M, Cavallo A, Xhaferi B, Cutruzzulà R, Vaglio A, Bresci S, Larti A, Bartoloni A, Cirami C
Transpl Infect Dis 2020 Aug;22(4):e13286. Epub 2020 Jul 14 doi: 10.1111/tid.13286. PMID: 32279418Free PMC Article
Median sacral artery injury following a bone marrow biopsy successfully treated with selective trans-arterial embolization: a case report.
Al Zahrani Y, Peck D
J Med Case Rep 2016 Feb 24;10:42. doi: 10.1186/s13256-016-0827-5. PMID: 26911721Free PMC Article
Acute liver failure secondary to opportunistic viral infection in adult solid organ transplant recipients.
Claridge LC, Dobson C, Kanji H, Neil D, Timms JM, Holt AP
QJM 2012 Sep;105(9):879-82. Epub 2011 Jul 19 doi: 10.1093/qjmed/hcr117. PMID: 21771853

Prognosis

Genetic analysis assists diagnosis of clinical systemic disease in children with excessive hyperopia.
Wen S, Min X, Zhu Y, Zhou X
BMC Pediatr 2022 May 24;22(1):305. doi: 10.1186/s12887-021-02992-7. PMID: 35610621Free PMC Article
Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome.
Ellingford JM, Sergouniotis PI, Lennon R, Bhaskar S, Williams SG, Hillman KA, O'Sullivan J, Hall G, Ramsden SC, Lloyd IC, Woolf AS, Black GC
Lancet 2015 May 9;385(9980):1916. doi: 10.1016/S0140-6736(15)60496-2. PMID: 25987160Free PMC Article
CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
Coppieters F, Lefever S, Leroy BP, De Baere E
Hum Mutat 2010 Oct;31(10):1097-108. doi: 10.1002/humu.21337. PMID: 20690115
Leber congenital amaurosis--differential diagnosis, ophthalmological and neuroradiological report of 18 patients.
Casteels I, Spileers W, Demaerel P, Casaer P, De Cock P, Dralands L, Missotten L
Neuropediatrics 1996 Aug;27(4):189-93. doi: 10.1055/s-2007-973785. PMID: 8892367
The nephronophthisis complex: clinical and genetic aspects.
Hildebrandt F, Waldherr R, Kutt R, Brandis M
Clin Investig 1992 Sep;70(9):802-8. doi: 10.1007/BF00180751. PMID: 1450635

Clinical prediction guides

Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4.
Wang J, Li S, Jiang Y, Wang Y, Ouyang J, Yi Z, Sun W, Jia X, Xiao X, Wang P, Zhang Q
Am J Ophthalmol 2023 Aug;252:188-204. Epub 2023 Mar 27 doi: 10.1016/j.ajo.2023.03.025. PMID: 36990420
CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
Coppieters F, Lefever S, Leroy BP, De Baere E
Hum Mutat 2010 Oct;31(10):1097-108. doi: 10.1002/humu.21337. PMID: 20690115
Nephronophthisis.
Salomon R, Saunier S, Niaudet P
Pediatr Nephrol 2009 Dec;24(12):2333-44. Epub 2008 Jul 8 doi: 10.1007/s00467-008-0840-z. PMID: 18607645Free PMC Article
Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene.
Omran H, Sasmaz G, Häffner K, Volz A, Olbrich H, Melkaoui R, Otto E, Wienker TF, Korinthenberg R, Brandis M, Antignac C, Hildebrandt F
J Am Soc Nephrol 2002 Jan;13(1):75-79. doi: 10.1681/ASN.V13175. PMID: 11752023
Clinical nosologic and genetic aspects of Joubert and related syndromes.
Chance PF, Cavalier L, Satran D, Pellegrino JE, Koenig M, Dobyns WB
J Child Neurol 1999 Oct;14(10):660-6; discussion 669-72. doi: 10.1177/088307389901401007. PMID: 10511339

Recent systematic reviews

Spectrum and frequencies of extraocular features reported in CEP290-associated ciliopathy - A systematic review.
Vrabič N, Fakin A, Tekavčič Pompe M
J Fr Ophtalmol 2024 Oct;47(8):104232. Epub 2024 Aug 29 doi: 10.1016/j.jfo.2024.104232. PMID: 39213781

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