Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation
Human Mutation, Volume 30, No. 11, Year 2009
Notification
URL copied to clipboard!
Description
Meckel-Gruber syndrome (MKS) is a lethal fetal disorder characterized by diffuse renal cystic dysplasia, polydactyly, a brain malformation that is usually occipital encephalocele, and/or vermian agenesis, with intrahepatic biliary duct proliferation. Joubert syndrome (JBS) is a viable neurological disorder with a characteristic "molar tooth sign" (MTS) on axial images reflecting cerebellar vermian hypoplasia/dysplasia. Both conditions are classified as ciliopathies with an autosomal recessive mode of inheritance. Allelism of MKS and JBS has been reported for TMEM67/MKS3, CEP290/MKS4, and RPGRIP1L/MKS5. Recently, one homozygous splice mutation with a founder effect was reported in the CC2D2A gene in Finnish fetuses with MKS, defining the 6th locus for MKS. Shortly thereafter, CC2D2A mutations were also reported in JBS. The analysis of the CC2D2A gene in our series of MKS fetuses, identified 14 novel truncating mutations in 11 cases. These results confirm the involvement of CC2D2A in MKS and reveal a major contribution of CC2D2A to the disease. We also identified three missense CC2D2A mutations in two JBS cases. Therefore, and in accordance with the data reported regarding RPGRIP1L, our results indicate phenotype-genotype correlations, as missense and presumably hypomorphic mutations lead to JBS while all null alleles lead to MKS. © 2009 Wiley-Liss, Inc.
Authors & Co-Authors
Mougou, S.
France, Paris
Hôpital Necker Enfants Malades
France, Paris
Université Paris Cité
Tunisia, Sousse
Hopital Farhat Hached Sousse
Thomas, Sophie
France, Paris
Hôpital Necker Enfants Malades
France, Paris
Université Paris Cité
Szenker, Emmanuelle
France, Paris
Hôpital Necker Enfants Malades
Audollent, Sophie
France, Paris
Hôpital Necker Enfants Malades
Elkhartoufi, Nadia
France, Paris
Hôpital Necker Enfants Malades
Babarit, Candice
France, Paris
Hôpital Necker Enfants Malades
Romano, Stéphane
France, Paris
Hôpital Necker Enfants Malades
Salomon, Rémi D.Sign©mi
France, Paris
Université Paris Cité
France, Paris
Hôpital Necker Enfants Malades
Amiel, Jeanne
France, Paris
Hôpital Necker Enfants Malades
France, Paris
Université Paris Cité
Esculpavit, Chantal
France, Paris
Université Paris Cité
Gonzalès, Marie Françoise
France, Paris
Hôpital Armand-trousseau
Escudier, Estelle
France, Paris
Inserm
Leheup, Bruno P.
France, Nancy
Chu de Nancy
Loget, Philippe
France, Rennes
Cabinet D'anatomie et Cytologie Pathologiques Richier
Odent, Sylvie
France, Rennes
Hopital Sud Chu Rennes
Roume, Joëlle
France, Poissy
Centre Hospitalier Intercommunal Poissy-st-germain-en-laye
Gérard, Marion
France, Paris
Hôpital Robert-debré Ap-hp
Delezoide, Anne
France, Paris
Hôpital Robert-debré Ap-hp
France, Paris
Université Paris Cité
Khung, Suonavy
France, Paris
Hôpital Robert-debré Ap-hp
Patrier, Sophie
France, Paris
Hôpital Armand-trousseau
Cordier, Marie Pierre
France, Lyon
Chu de Lyon
Bouvier, Raymonde J.
France, Lyon
Chu de Lyon
Martinovic, Jéléna
France, Paris
Hôpital Necker Enfants Malades
Gübler, Marie Claire
France, Paris
Hôpital Necker Enfants Malades
Boddaert, Nathalie
France, Paris
Hôpital Necker Enfants Malades
Münnich, Arnold
France, Paris
Hôpital Necker Enfants Malades
France, Paris
Université Paris Cité
Encha-Razavi, Féréchté
France, Paris
Hôpital Necker Enfants Malades
France, Paris
Université Paris Cité
Valente, Enza Maria
Italy, Rome
Gregor Mendel Institute
Italy, Messina
Università Degli Studi Di Messina
Saâd, Ali
Tunisia, Sousse
Hopital Farhat Hached Sousse
Saunier, Sophie
France, Paris
Université Paris Cité
France, Paris
Hôpital Necker Enfants Malades
Vekemans, Michel J.J.
France, Paris
Hôpital Necker Enfants Malades
France, Paris
Université Paris Cité
Attié-Bitach, Tania
France, Paris
Hôpital Necker Enfants Malades
France, Paris
Université Paris Cité
Statistics
Citations: 89
Authors: 32
Affiliations: 13
Identifiers
Doi:
10.1002/humu.21116
ISSN:
10597794
Research Areas
Cancer
Genetics And Genomics