Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients

Lefebvre, Mathilde; Dieux-Coëslier, Anne; Baujat, Geneviève; Schaefer, Eric; Judith, Saint-Onge; Bazin, Anne; Pinson, Lucile; Attié‐Bitach, Tania; Baumann, Clarisse; Fradin, Mélanie; Pierquin, Geneviève; Julia, Sophie; Quēlin, Chloé; Doray, Bérénice; Berg, Sylvie; Vincent‐Delorme, Catherine; Lambert, Laëtitia; Bachmann, Nadine; Lacombe, Didier; Isidor, Bertrand; Laurent, Nicole; Roume, J.; Blanchet, P.; Odent, Sylvie; Kervran, Dominique; Leporrier, Nathalie; Abel, C.; Segers, Karine; Guiliano, Fabienne; Ginglinger-Fabre, E.; Selicorni, Angelo; Goldenberg, Alice; Chehadeh, Salima El; Francannet, Christine; Duffourd, Yannis; Thauvin‐Robinet, Christel; Verloès, Alain; Cormier‐Daire, Valérie; Rivière, Jean Baptiste; Faivre, Laurence; Thévenon, Julien

doi:10.1136/jmedgenet-2017-104939

Cited by 17 publications

(30 citation statements)

References 31 publications

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“…Since FFS does not show any evidence being a monogenic condition, it can be considered a syndrome of complex origin. In this sense, even using a combination of different tools (for instance, CGHa, targeted NGS, WES, WGS) in patients with multifactorial diseases, to date the results have not been sufficient to elucidate the genetic causes of complex conditions (Antonarakis, Chakravarti, Cohen, & Hardy, ; Lefebvre et al, ; Manolio et al, ).…”

Section: Discussionmentioning

confidence: 99%

Femoral‐facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair

Lacarrubba-Flores

Carvalho

Ribeiro

et al. 2018

American J of Med Genetics Pt A

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Femoral-facial syndrome (FFS, OMIM 134780), also known as femoral hypoplasia-unusual face syndrome, is a rare sporadic syndrome associated with maternal diabetes, and comprising femoral hypoplasia/agenesis and a distinct facies characterized by micrognathia, cleft palate, and other minor dysmorphisms. The evaluation of 14 unpublished Brazilian patients, prompted us to make an extensive literature review comparing both sets of data. From 120 previously reported individuals with FFS, 66 were excluded due to: not meeting the inclusion criteria (n = 21); not providing sufficient data to ascertain the diagnosis (n = 29); were better assigned to another diagnosis (n = 3); and, being fetuses of the second trimester (n = 13) due to the obvious difficult to confirm a typical facies. Clinical-radiological and family information from 54 typical patients were collected and compared with the 14 new Brazilian patients. The comparison between the two sets of patients did not show any relevant differences. Femoral involvement was most frequently hypoplasia, observed in 91.2% of patients, and the typical facies was characterized by micrognathia (97%), cleft palate (61.8%), and minor dysmorphisms (frontal bossing 63.6%, short nose 91.7%, long philtrum 94.9%, and thin upper lip 92.3%). Clubfoot (55.9%) was commonly observed. Other observed findings may be part of FFS or may be simply concurrent anomalies since maternal diabetes is a common risk factor. While maternal diabetes was the only common feature observed during pregnancy (50.8%), no evidence for a monogenic basis was found. Moreover, a monozygotic discordant twin pair was described reinforcing the absence of a major genetic factor associated with FFS.

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Section: Discussionmentioning

confidence: 99%

Femoral‐facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair

Lacarrubba-Flores

Carvalho

Ribeiro

et al. 2018

American J of Med Genetics Pt A

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“…Human mutations in LFNG give rise to spondylocostal dysostosis [106, 107], but no mutations in MFNG or RFNG have yet been associated with any human pathology. However, upregulation of MFNG has been correlated with tumor progression in claudin-low breast cancer, due to increased Notch signalling and the induction of PI3KCG [108].…”

Section: O-fucose Glycansmentioning

confidence: 99%

Multiple roles for O‐glycans in Notch signalling

Varshney

Stanley

2018

FEBS Letters

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Notch signalling regulates a plethora of developmental processes and is also essential for the maintenance of tissue homeostasis in adults. Therefore, fine-tuning of Notch signalling strength needs to be tightly regulated. Of key importance for the regulation of Notch signalling are O-fucose, O-GlcNAc and O-glucose glycans attached to the extracellular domain of Notch receptors. The EGF repeats of the Notch receptor extracellular domain harbour consensus sites for addition of the different types of O-glycan to Ser or Thr, which takes place in the endoplasmic reticulum. Studies from Drosophila to mammals have demonstrated the multifaceted roles of O-glycosylation in regulating Notch signalling. O-glycosylation modulates different aspects of Notch signalling including recognition by Notch ligands, the strength of ligand binding, Notch receptor trafficking, stability and activation at the cell surface. Defects in O-glycosylation of Notch receptors give rise to pathologies in humans. This Review summarizes the nature of the O-glycans on Notch receptors and their differential effects on Notch signalling.

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“…(E) Schematic representation of LFNG gene and localization of published mutations in patients with SCDO3. [1][2][3][4] The variant described in this study is located in exon 2 of LFNG (NM_001040167. LFNG belongs to the Fringe genes encoding a family of glycosyltransferases in the Notch signaling pathway and is localized to the Golgi.…”

mentioning

confidence: 93%