Joubert sendromu
Kalıtsal - AD/AR (fenotiploere göre farklı)
39 fenotip
Bazı olgular Meckel sendromları ile çakışmaktadır
3 ana bulgu: beyin anomalileri, gelişme geriliği, hipotoni
Yan bulgular (etkilenen genlere göre farklılıklar)
Makrosefali
Oksipital ensefalosel
Alın bombesi yüksek
Yarım çember kaşlar
Hipertelorizm
Gözde koloboma
Retina distrofisi
Optik atrofi
Ptozis
Strabismus
Garip yüz yapısı
Hemifasiyal spazm
Üçgen biçiminde ağız
Dil dışarıda
Dilde tremor
Oral hamartomalar
Yarık damak
Kalpte septum defekti
Rektovaginal fistül
Böbrek hastalıkları
Karaciğer fibrozisi
Parmaklarda anomaliler
Endokrin bozukluklar
Apne atakları
Konuşma ve davranış bozuklukları
Ataksi
Zeka geriliği
Konjenital hepatik fibrozis bulguları eklenirse: COACH sendromu
Önemli fenotip: acrocallosal sendrom
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Çataltepe S, Tunçbilek E. A family with one child with acrocallosal syndrome, one child with anencephaly-polydactyly, and parental consanguinity. European Journal of Pediatrics, 151: 288-290, 1992
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Maria BL, Boltshauser E, Palmer SC, Tran TX. Clinical features and revised diagnostic criteria in Joubert syndrome. Journal of Child Neurology, 14:583–590, 1999
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Haug K, Khan S, Fuchs S, König R. OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs. American Journal of Medical Genetics, 91(2):135-137, 2000
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Koenig, R., Bach, A., Woelki, U., Grzeschik, K.-H., Fuchs, S. Spectrum of the acrocallosal syndrome. American Journal of Medical Genetics, 108: 7-11, 2002
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Valente EM, Marsh SE, Castori M, et al. Distinguishing the four genetic causes of Joubert syndrome-related disorders. Annals of Neurology, 57: 513-519, 2005
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Aykut A, Cogul, O, Ekmekci AY, Ozkinay F. An additional manifestation in acrocallosal syndrome: temporal lobe hypoplasia. Genetic Counseling, 19: 237-240, 2008
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Spampinato MV, Kraas J, Maria BL, et al. Absence of decussation of the superior cerebellar peduncles in patients with Joubert syndrome. American Journal of Medical Genetics, 146A: 1389-1394, 2008
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Doherty D. Joubert syndrome: Insights into brain development, cilium biology, and complex disease. Seminars in Pediatric Neurology, 16:143–154, 2009
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Doherty D, Parisi MA, Finn LS, et al. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). Journal of Medical Genetics, 47: 8-21, 2010
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Dafinger C, Liebau MC, Elsayed SM., et al. Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. Journal of Clinical Investigation, 121: 2662-2667, 2011
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Lee JE, Silhavy JL, Zaki MS, et al. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nature Genetics, 44: 193-199, 2012
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Alkanderi S, Molinari E, Shaheen Ret al. ARL3 mutations cause Joubert syndrome by disrupting ciliary protein composition. American Journal of Human Genetics, 103: 612-620, 2018