Human genetic factors in nonsyndromic cleft lip and palate: An update

Carinci, Francesco; Scapoli, Luca; Palmieri, Annalisa; Zollino, Ilaria; Pezzetti, Furio

doi:10.1016/j.ijporl.2007.06.007

Cited by 129 publications

(124 citation statements)

References 105 publications

(106 reference statements)

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“…This datum supports the notion that formation of the primary palate and of the secondary palate are two quite distinct procedures 1 . Moreover, these studies have also discerned the existence of clefts related to the X chromosome that are caused by a defect on it coded for the transcription factor T-box, (TBX22): this molecule plays an essential role in the early intra-uterine development of mammals, notably in the differentiation of the mesenchyme 8 .…”

Section: Molecular Factors In Embryonic Development Of the Palatesupporting

confidence: 86%

Labio-maxillo-palatal clefts: morphological and embryological aspects

Ducreux¹,

Duvernay²,

Malka³

et al. 2011

J Dentofacial Anom Orthod

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The designation labio-maxillo-palatal cleft is used to describe two types of congenital malformations of the palate. The mechanisms that create them occur in the early weeks of fetal life by an alteration of embryological message delivery that researchers have been able to analyze. But they have not as yet been able to discern the multi-factorial causes of this alteration.Morphological embryology and its chronology are important because researchers use an understanding of them to distinguish between different entities of clefts on the basis of the stage of palatal formation in which they began to develop: the numerous molecules involved In cell development are already well known, but researchers have not yet precisely identified those that are associated with the various stages of palatal morphogenesis. But it is clear that genetic alterations, which are now being pin-pointed, trigger developmental malfunctionings that are later intensified by faulty interactions in the fetalmaternal environment because.Conclusion: Although researchers are progressively gaining a better understanding of the mechanisms of the intra-uterine formation of labiomaxillo-palatal clefts, we have not yet acquired the broad range of data that would make it possible to correct defective palatal formation before birth. KEYWORDS Labio-maxillo-palatal cleftCranio-facial embryology Congenital malformation

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Section: Molecular Factors In Embryonic Development Of the Palatesupporting

confidence: 86%

Labio-maxillo-palatal clefts: morphological and embryological aspects

Ducreux¹,

Duvernay²,

Malka³

et al. 2011

J Dentofacial Anom Orthod

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“…Irf6 is expressed in the facial primordium prior to and during morphogenesis of the primary palate (Washbourne & Cox, 2006), and preliminary findings in mice have revealed Irf6 expression in the medial edge epithelia of fusing secondary palatal shelves, tooth buds, hair follicles, and skin (Kondo et al, 2002). While Irf6 is presumed to have a role in CBCLP, there has been no evidence in support of this possibility, although a study established a link between Irf6 and the etiology of nonsyndromic CLP in populations of European ancestry (Carinci et al, 2007). In the present study, elevated IRF6 expression was observed in fibroblasts and macrophages in connective tissue from patients with CBCLP.…”

Section: Discussionmentioning

confidence: 99%

IRF6, RYK, and PAX9 Expression in Facial Tissue of Children with Cleft Palate

Smane

Pilmane

2015

Int. J. Morphol.

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“…The prevalence of CLP varies with geographic and ethnic background, with an average rate of 1 in 700 newborns (Schutte and Murray, 1999). Several genes have been implicated in human CLP (Carinci et al, 2007), and studies in animal models have revealed that the Tgfβ/Bmp, Fgf and Shh morphogenetic pathways are involved in facial development and lip formation . These signaling pathways control the proliferation, differentiation and migration of cranial neural crest cells and epithelial ectodermal cells that contribute to the formation of orofacial and neck complexes.…”

Section: Introductionmentioning

confidence: 99%

Lrp6-mediated canonical Wnt signaling is required for lip formation and fusion

et al. 2009

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Neither the mechanisms that govern lip morphogenesis nor the cause of cleft lip are well understood. We report that genetic inactivation of Lrp6, a co-receptor of the Wnt/β-catenin signaling pathway, leads to cleft lip with cleft palate. The activity of a Wnt signaling reporter is blocked in the orofacial primordia by Lrp6 deletion in mice. The morphological dynamic that is required for normal lip formation and fusion is disrupted in these mutants. The expression of the homeobox genes Msx1 and Msx2 is dramatically reduced in the mutants, which prevents the outgrowth of orofacial primordia, especially in the fusion site. We further demonstrate that Msx1 and Msx2 (but not their potential regulator Bmp4) are the downstream targets of the Wnt/β-catenin signaling pathway during lip formation and fusion. By contrast, a `fusion-resistant'gene, Raldh3 (also known as Aldh1a3), that encodes a retinoic acid-synthesizing enzyme is ectopically expressed in the upper lip primordia of Lrp6-deficient embryos, indicating a region-specific role of the Wnt/β-catenin signaling pathway in repressing retinoic acid signaling. Thus, the Lrp6-mediated Wnt signaling pathway is required for lip development by orchestrating two distinctively different morphogenetic movements.

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Human genetic factors in nonsyndromic cleft lip and palate: An update

Cited by 129 publications

References 105 publications

Labio-maxillo-palatal clefts: morphological and embryological aspects

Labio-maxillo-palatal clefts: morphological and embryological aspects

IRF6, RYK, and PAX9 Expression in Facial Tissue of Children with Cleft Palate

Lrp6-mediated canonical Wnt signaling is required for lip formation and fusion

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