Carotid artery dissection in an adult with the Simpson–Golabi–Behmel syndrome

Pénisson-Besnier, I.; Lebouvier, Thibaud; Moizard, Marie‐Pierre; Ferré, Marc; Barth, Magalie; Guillaume, Marc; Raynaud, Martine; Bonneau, Dominique

doi:10.1002/ajmg.a.32154

Cited by 19 publications

(14 citation statements)

References 13 publications

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“…The point mutations included seven frameshift, five nonsense, and five missense mutations and were distributed throughout the gene. No mutational hot‐spots were detected but it is worth noting that the missense mutation, Gly556Arg, previously reported was observed in two other unrelated families [Pénisson‐Besnier et al, ]. The same amino‐acid was also involved in another substitution, Gly556Val, in one family.…”

Section: Methodsmentioning

confidence: 64%

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Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature

Cottereau¹,

Mortemousque²,

Moizard³

et al. 2013

American J of Med Genetics Pt C

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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.

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Section: Methodsmentioning

confidence: 64%

“…We could not obtain information for only one patient with a deletion of exons 6–8 of GPC3 . Two patients already published [Pénisson‐Besnier et al, ; Ratbi et al, ] were part of this study as additional information could be obtained. Finally 42 cases (22 sporadic and 20 familial) belonging to 31 families were analyzed.…”

Section: Methodsmentioning

confidence: 99%

Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature

Cottereau¹,

Mortemousque²,

Moizard³

et al. 2013

American J of Med Genetics Pt C

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“…FGF and Hedgehog signaling, in particular, function in the development of the cardiac outflow tract and atrioventricular canal, and the absence of Gpc3 expression in the developing heart and associated tissues likely contribute to the heart defects observed in our mouse model (Goddeeris et al, 2008; Goddeeris et al, 2007; Hutson et al, 2006; Park et al, 2008). Although coronary vascular abnormalities have not been specifically described in SGBS, there has been a case report describing clinically significant abnormalities of the carotid artery (Penisson-Besnier et al, 2008) suggesting the importance of studying Gpc3 to understanding the biology of vascular development. The unanticipated discovery of coronary artery fistulas in Gpc3 -deficient mice offers novel insight into the molecular basis of coronary development.…”

Section: Discussionmentioning

confidence: 99%

Loss of glypican-3 function causes growth factor-dependent defects in cardiac and coronary vascular development

Wong

Viviano

et al. 2009

Developmental Biology

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Glypican-3 (Gpc3) is a heparan sulfate proteoglycan (HSPG) expressed widely during vertebrate development. Loss-of-function mutations cause Simpson Golabi Behmel Syndrome (SGBS), a rare and complex congenital overgrowth syndrome with a number of associated developmental abnormalities including congenital heart disease. We found that Gpc3-deficient mice display a high incidence of congenital cardiac malformations like ventricular septal defects, common atrioventricular canal and double outlet right ventricle. In addition we observed coronary artery fistulas, which have not been previously reported in SGBS. Coronary artery fistulas are noteworthy because little is known about the molecular basis of this abnormality. Formation of the coronary vascular plexus in Gpc3-deficient embryos was delayed compared to wild-type, and consistent with GPC3 functioning as a co-receptor for fibroblast growth factor-9 (FGF9), we found a reduction in sonic hedgehog (Shh) mRNA expression and signaling in embryonic mutant hearts. Interestingly, we found an asymmetric reduction in SHH signaling in cardiac myocytes, as compared with perivascular cells, resulting in excessive coronary artery formation in the Gpc3-deficient animals. We hypothesize that the excessive development of coronary arteries over veins enables the formation of coronary artery fistulas. This work has broad significance to understanding the genetic basis of coronary development and potentially to molecular mechanisms relevant to revascularization following ischemic injury to the heart.

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“…Typically, mutations involve loss of one or more GPC3 exons (frequently involving exon 8) that would result in truncated proteins, or involve translocations into GPC3 introns that presumably also disrupt GPC3 function . Several point mutations have been identified, and two of them have been shown to result in substantially diminished function or loss of function . Rarely, the deletions also disrupt the adjacent GPC4 gene, but there are no data to indicate that mutation of GPC4 alone can cause SGBS.…”

Section: The Involvement Of Glypicans In Human Disease With Skeletal mentioning

confidence: 99%

“…58,67,91,[124][125][126][127] Several point mutations have been identified, and two of them have been shown to result in substantially diminished function or loss of function. 126,128,129 Rarely, the deletions also disrupt the adjacent GPC4 gene, 67,126 but there are no data to indicate that mutation of GPC4 alone can cause SGBS. Indeed, deletion of exons 7 and 8 of GPC3 and of the entire GPC4 gene are not notably associated with any other clinical features outside the normal spectrum seen in SGBS patients.…”

Section: Simpson-golabi-behmel Syndrome (Gpc3 Mutation)mentioning

confidence: 99%

Boning up on glypicans—opportunities for new insights into bone biology

Dwivedi

Lam

Powell

2013

Cell Biochemistry & Function

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Bone formation is remarkable for the convergence in the activity of four major signalling pathways, the bone morphogenetic protein (BMP), fibroblast growth factor (FGF), hedgehog (HH) and wingless-integrated (WNT) pathways. These pathways cooperate in morphogenetic, proliferative and differentiative processes that underpin the development, growth and repair of skeletal structures. They are regulated by pathway-specific modulators and by another class of molecules, the glypicans. Glypicans are proteoglycans located on the cell surface, where they act as coreceptors to promote or inhibit signalling by ligands of the BMP, FGF, HH and WNT pathways, through protein-protein and protein-carbohydrate interactions. In this review, we discuss glypican structure, expression and function in the context of bone development and growth, with emphasis on the long bone growth plate where five of the six glypicans are expressed in overlapping patterns in the chondrogenic zone. Analyses of gene knockout models and the human conditions of Simpson-Golabi-Behmel syndrome and omodysplasia, which arise from mutations in glypican 3 (GPC3) and GPC6, respectively, highlight both subtle and striking effects of glypicans on bone growth. We draw attention to challenges and areas of opportunity, where the actions of glypicans on BMP, FGF, HH and WNT signalling might be profitably studied to help illuminate the complex interplay of signalling that drives bone growth.

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Carotid artery dissection in an adult with the Simpson–Golabi–Behmel syndrome

Cited by 19 publications

References 13 publications

Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature

Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature

Loss of glypican-3 function causes growth factor-dependent defects in cardiac and coronary vascular development

Boning up on glypicans—opportunities for new insights into bone biology

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