Parisi et al listed a strategy for making the diagnosis of Joubert Syndrome. The authors are from the University of Washington in Seattle.
Patient selection: suspected Joubert Syndrome
(1) molar tooth sign on brain MRI
(2) renal dysfunction
(3) Leber congenital amaurosis
Molar Tooth Sign
Leber Congenital Amaurosis
consider alternative diagnosis
• AHI1 is at 6q23.3 (JBTS3)
• CEP290 is at 12q21.32 (JBTS5)
• NPHP1 is at 2q13 (JBTS4)
If the molar tooth sign is present and a mutation is found in one of the implicated genes, then diagnosis established.
If the molar tooth sign is present and a mutation is not found in one of the implicated genes, then consider alternative mutations:
(1) 9q34.3 (JBTS1)
(2) 11p12-11q13.3 (JBTS2, CORS2)
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