The Center for Cerebellar Malformations

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State of Research

Researchers worldwide are searching for the genes involved in Joubert syndrome (JS). Researchers in our lab have recently discovered the second gene for Joubert syndrome (Valente et al 2006) along with a group from the University of Michigan (Sayer et al 2006). This gene is called CEP290. Patients with defects in this gene usually present with additional eye and kidney involvement.

In 2004 researchers from our lab (Dixon-Salazar et al 2004) identified the first gene for Joubert syndrome along with a group from Harvard (Ferland et al 2004). The gene is called AHI1 or Jouberin. Patients with defects in this gene usually present with a classical form of JS.

Click the links below to download pdf versions of the Gleeson lab

CEP290 paper:

Valente EM, Silhavy JL, Brancati F, Barrano G, Krishnaswami SR, Castori M, Lancaster MA, Boltshauser E, Boccone L, Al-Gazali L, Fazzi E, Signorini S, Louie CM, Bellacchio E, Related Disorders Study Group, Bertini E, Dallapiccola B & Gleeson JG. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet 38:623-28.

AHI1 paper:

Dixon-Salazar T, Silhavy JL, Marsh SE, Louie CM, Scott LC, Gururaj A, Al-Gazali L, Al-Tawari AA, Kayserili H, Sztriha L, Gleeson JG. 2004. Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria. Am J Hum Genet. 75:979-87.

JS has been mapped to two other published linkage regions.

1. 9q34.3 (Saar et al 1999)

These patients have a classical form of JS

2. 11p12-q13.3 (our lab *Keeler et al 2003 & another group Valente et al 2003)

These patients have additional eye or kidney involvement

The Gleeson lab is cloning the Joubert gene(s) from the published linkage regions working with DNA from some of the original families involved in establishing the linkage regions as well as other families who link to these regions recruited by our lab with assistance from international and local collaborators.

In addition the lab has also obtained samples from many smaller families with JS. The Gleeson lab is investigating the possibility that these and other sporadic patients have a homozygous or compound heterozygous mutation in one of the published linkage regions.

The overall goal of this line of research is to understand the genetic basis of JS. Towards this end, the lab is recruiting JS patients from all parts of the United States and around the world for an ongoing genetic study.

Researchers in the Gleeson lab and elsewhere are learning that there are several variants of JS. It is important to accurately diagnose each patient. Click on this link to view a letter to healthcare providers for more details.

v Treating Patients with Joubert Syndrome

v Letter to Healthcare Providers

v Call for Patients

v Study Information

v Study Forms