RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

Joubert syndrome‐related disorders (JSRDs) are autosomal recessive pleiotropic conditions sharing a peculiar cerebellar and brainstem malformation known as the ‘molar tooth sign’ (MTS). Recently, mutations in a novel ciliary gene, RPGRIP1L, have been shown to cause both JSRDs and Meckel–Gruber syndr...

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Bibliographic Details
Published in:Clinical genetics 2008-08, Vol.74 (2), p.164-170
Main Authors: Brancati, F, Travaglini, L, Zablocka, D, Boltshauser, E, Accorsi, P, Montagna, G, Silhavy, JL, Barrano, G, Bertini, E, Emma, F, Rigoli, L, Dallapiccola, B, Gleeson, JG, Valente, EM
Format: Article
Language:English
Subjects:
Adaptor Proteins, Signal Transducing - genetics
Adult
Biological and medical sciences
Birth defects
Brain Stem - abnormalities
Cerebellum - abnormalities
Cerebellum - pathology
Child, Preschool
Cohort Studies
DNA Mutational Analysis
Family Health
Female
Fundamental and applied biological sciences. Psychology
General aspects. Genetic counseling
Genetic disorders
Genetic Testing
Genetics of eukaryotes. Biological and molecular evolution
Genotype & phenotype
Humans
Joubert syndrome-related disorders
Kidney - abnormalities
Kidney - pathology
Magnetic Resonance Imaging
Male
Malformations of the nervous system
Medical genetics
Medical sciences
molar tooth sign
Molecular and cellular biology
Mutation
nephronophthisis
Neurology
Phenotype
RPGRIP1L
Syndrome
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Summary:Joubert syndrome‐related disorders (JSRDs) are autosomal recessive pleiotropic conditions sharing a peculiar cerebellar and brainstem malformation known as the ‘molar tooth sign’ (MTS). Recently, mutations in a novel ciliary gene, RPGRIP1L, have been shown to cause both JSRDs and Meckel–Gruber syndrome. We searched for RPGRIP1L mutations in 120 patients with proven MTS and phenotypes representative of all JSRD clinical subgroups. Two homozygous mutations, the previously reported p.T615P in exon 15 and the novel c.2268_2269delA in exon 16, were detected in 2 of 16 families with cerebello‐renal presentation (∼12%). Conversely, no pathogenic changes were found in patients with other JSRD phenotypes, suggesting that RPGRIP1L mutations are largely confined to the cerebello‐renal subgroup, while they overall represent a rare cause of JSRD (
ISSN:0009-9163
1399-0004
DOI:10.1111/j.1399-0004.2008.01047.x