Joubert syndromeGene: PIBF1
Homozygous c.1910A>C p.Asp637Ala missense mutation in 4 Hutterite Joubert families. Hypomorphic mutation rather than complete null. This allele didn't rescue loss of cilia after Pibf1 siRNA knockdown in cell cultures, but expression of wild-type PIBF1 did. 7 Joubert families with heterozygous PIBF1 mutations, unknown clinical relevance
Created: 5 Jul 2016, 3:41 p.m.
This proposed gene was validated and added to this panel
PIBF1 was created by GabielleWheway
PIBF1 was added to Joubert syndromepanel. Sources: Expert Review,Literature,Research