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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

 

• 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

• 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

• 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

• 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

• 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

• Aykut A, Cogul, O, Ekmekci AY, Ozkinay F. An additional manifestation in acrocallosal syndrome: temporal lobe hypoplasia. Genetic Counseling, 19: 237-240, 2008

• 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

• Doherty D. Joubert syndrome: Insights into brain development, cilium biology, and complex disease. Seminars in Pediatric Neurology, 16:143–154, 2009

• 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

• 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

• 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

• 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

 

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