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| joubert_syndrome [2025/11/02 23:21] – Scott Larson | joubert_syndrome [2025/11/02 23:26] (current) – [Etiology] Scott Larson | ||
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| ==== Etiology ==== | ==== Etiology ==== | ||
| - | * Autosomal Recessive | + | * Defects in function of primary cilia, one of the ciliopathies |
| + | * Mostly | ||
| + | * Half the cases have a mutation in only one of 4 genes: AHI1 15%, C5orf42 13%, KIAA0586 11% and CSPP1 10% | ||
| + | * at least 28 genes implicated most related to cilia formation/ | ||
| + | * | ||
| * First described in 1969, by 1991, 94 patients reported | * First described in 1969, by 1991, 94 patients reported | ||
| * More commonly reported in cultures of consanguinity, | * More commonly reported in cultures of consanguinity, | ||