Joubert-like syndrome unlinked to known candidate loci.
We observed the Joubert syndrome (JS) associated with bilateral morning glory disk anomaly and cystic dysplastic kidneys in three patients from a consanguineous kindred. Homozygosity mapping excluded three JS candidate loci as sites harboring the disease gene. We thus delineate an autosomal recessive disorder, distinct from JS and related conditions.
Janecke
Andreas R
AR
Departments of Pediatrics and Ophthalmology, University-Hospital Innsbruck, Institutes of Medical Biology, Human Genetics, and Pathology, University of Innsbruck, Innsbruck, Austria. janecke@uibk.ac.at
Müller
Thomas
T
Gassner
Ingmar
I
Kreczy
Alfons
A
Schmid
Eduard
E
Kronenberg
Florian
F
Utermann
Barbara
B
Utermann
Gerd
G
D000328:Adult; D002531:Cerebellum / Q000002:abnormalities; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D008588:Meningocele / Q000235:genetics; D009898:Optic Disk / Q000002:abnormalities*; D009901:Optic Nerve Diseases / Q000235:genetics*; D010375:Pedigree; D007690:Polycystic Kidney Diseases / Q000235:genetics*; D011247:Pregnancy; D011596:Psychomotor Disorders / Q000235:genetics; D012120:Respiration Disorders / Q000235:genetics; D013577:Syndrome