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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Phenotypic spectrum of simpson-golabi-behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, Volume 163, No. 2, Year 2013
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Description
Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked multiple congenital abnormality/intellectual disability syndrome characterized by pre- and post-natal overgrowth, distinctive craniofacial features, macrocephaly, variable congenital malformations, organomegaly, increased risk of tumor and mild/moderate intellectual deficiency. In 1996, Glypican 3 (GPC3) was identified as the major gene causing SGBS but the mutation detection rate was only 28-70%, suggesting either genetic heterogeneity or that some patients could have alternative diagnoses. This was particularly suggested by some reports of atypical cases with more severe prognoses. In the family reported by Golabi and Rosen, a duplication of GPC4 was recently identified, suggesting that GPC4 could be the second gene for SGBS but no point mutations within GPC4 have yet been reported. In the genetics laboratory in Tours Hospital, GPC3 molecular testing over more than a decade has detected pathogenic mutations in only 8.7% of individuals with SGBS. In addition, GPC4 mutations have not been identified thus raising the question of frequent misdiagnosis. In order to better delineate the phenotypic spectrum of SGBS caused by GPC3 mutations, and to try to define specific clinical criteria for GPC3 molecular testing, we reviewed the clinical features of all male cases with a GPC3 mutation identified in the two molecular laboratories providing this test in France (Tours and Paris). We present here the results of the analysis of 42 patients belonging to 31 families and including five fetuses and three deceased neonates. © 2013 Wiley Periodicals, Inc.
Authors & Co-Authors
Mortemousque, Isabelle
Unknown Affiliation
Moizard, Marie Pierre
Unknown Affiliation
Bürglen, Lydie
Unknown Affiliation
Lacombe, Didier
Unknown Affiliation
Gilbert-Dussardier, Brigitte
Unknown Affiliation
Sigaudy, Sabine
Unknown Affiliation
Boute, Odile
Unknown Affiliation
David, Albert
Unknown Affiliation
Faivre, Laurence Olivier
Unknown Affiliation
Amiel, Jeanne
Unknown Affiliation
Bieth, Éric
Unknown Affiliation
Odent, Sylvie
Unknown Affiliation
Demeer, Bénédicte
Unknown Affiliation
Mathieu-Dramard, Michèle
Unknown Affiliation
Gaillard, Dominique A.
Unknown Affiliation
Van-Maldergem, Lionel
Unknown Affiliation
Baujat, Geneviève
Unknown Affiliation
Maystadt, Isabelle
Unknown Affiliation
Héron, Délphine
Unknown Affiliation
Verloès, Alain
Unknown Affiliation
Philip, Nicole
Unknown Affiliation
Cormier-Dairé, Valeŕie
Unknown Affiliation
Pinson, Lucile
Unknown Affiliation
Blanchet, Patricia
Unknown Affiliation
Sarda, Pierre
Unknown Affiliation
Willems, Marjolaine
Unknown Affiliation
Jacquinet, Adeline
Unknown Affiliation
Ratbi, Ilham
Unknown Affiliation
van den Ende, Jenneke J.
Unknown Affiliation
Lackmy-Port-Lis, Marilyn
Unknown Affiliation
Goldenberg, Alice
Unknown Affiliation
Bonneau, Dominique
Unknown Affiliation
Rossignol, Sylvie
Unknown Affiliation
Toutain, Annick M.
France, Tours
Centre Hospitalier Regional et Universitaire de Tours
France, Tours
Imagerie et Cerveau Ibrain
Statistics
Citations: 76
Authors: 34
Affiliations: 2
Identifiers
Doi:
10.1002/ajmg.c.31360
ISSN:
15524876
Research Areas
Cancer
Disability
Genetics And Genomics
Health System And Policy
Participants Gender
Male