Clinical features of Senior-Loken syndrome with IQCB1/NPHP5 mutation in a Filipino man |
Chiu, Harold Henrison C.
(Department of Medicine, Philippine General Hospital, University of the Philippines Manila)
Sucaldito, Ma. Sergia Fatima P. (Department of Medicine, Philippine General Hospital, University of the Philippines Manila) Maceda, Ebner Bon G. (Division of Clinical Genetics, Department of Paediatrics, Philippine General Hospital, University of the Philippines Manila) Montemayor, Jan Andre S. (Division of Nephrology, Department of Medicine, Philippine General Hospital, University of the Philippines Manila) Tamondong-Lachica, Diana R. (Department of Medicine, Philippine General Hospital, University of the Philippines Manila) |
1 | Senior B, Friedmann AI, Braudo JL. Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy. Am J Ophthalmol 1961;52:625-33. DOI |
2 | Loken AC, Hanssen O, Halvorsen S, Jolster NJ. Hereditary renal dysplasia and blindness. Acta Paediatr 1961;50:177-84. DOI |
3 | Otto EA, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan S, et al. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet 2005;37:282-8. DOI |
4 | Hildebrandt F, Attanasio M, Otto E. Nephronophthisis: disease mechanisms of a ciliopathy. J Am Soc Nephrol 2009;20:23-35. DOI |
5 | Aggarwal HK, Jain D, Yadav S, Kaverappa V, Gupta A. Senior-Loken syndrome with rare manifestations: a case report. Eurasian J Med 2013;45:128-31. DOI |
6 | Clarke MP, Sullivan TJ, Francis C, Baumal R, Fenton T, Pearce WG. Senior-Loken syndrome. Case reports of two siblings and association with sensorineural deafness. Br J Ophthalmol 1992;76:171-2. DOI |
7 | AlFadhel M, AlAmir A. Senior-Loken syndrome in a Saudi child. Saudi J Kidney Dis Transpl 2008;19:443-5. |
8 | Haghighi A, Al-Hamed M, Al-Hissi S, Hynes AM, Sharifian M, Roozbeh J, et al. Senior-Loken syndrome secondary to NPHP5/IQCB1 mutation in an Iranian family. NDT Plus 2011;4:421-3. DOI |
9 | Tong H, Yue Z, Sun L, Chen H, Wang W, Wang H. Clinical features and mutation of NPHP5 in two Chinese siblings with Senior-Loken syndrome. Nephrology (Carlton) 2013;18:838-42. DOI |
10 | Marafie MJ, Mulla FA. Senior-Loken syndrome: a novel NPHP5 gene mutation in a family from Kuwait. Egypt J Med Hum Genet 2014;15:203-7. DOI |
11 | Kaur A, Dhir SK, Goyal G, Mittal N, Goyal RK. Senior Loken Syndrome. J Clin Diagn Res 2016;10:SD03-4. |
12 | Khairil-Ridzwan KK, Azian A, Hanizasurana H, Shatriah I. Exudative retinal detachment due to coats disease in a teenager with senior-loken syndrome: case report and review of literature. Cureus 2019;11:e4460. |
13 | Benzing T, Walz G. Cilium-generated signaling: a cellular GPS? Curr Opin Nephrol Hypertens 2006;15:245-9. DOI |
14 | Otto EA, Schermer B, Obara T, O'Toole JF, Hiller KS, Mueller AM, et al. Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and leftright axis determination. Nat Genet 2003;34:413-20. DOI |
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