The pathogenesis of the treacher Collins syndrome (Mandibulofacial dysostosis)

Poswillo, David

doi:10.1016/0007-117x(75)90019-0

Cited by 200 publications

(89 citation statements)

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“…Interestingly, the Tcof1 gene is spatiotemporally expressed in the neuroepithelium and in the neural crest-derived facial mesenchyme during early mouse embryogenesis, implying it plays a role in the development of these tissues. 23 Contrary to previous hypotheses, 18 cell lineage tracing performed in mouse models of TCS exhibiting severe craniofacial hypoplasia and dysplasia (Figure 3a and b) revealed no migratory nor path finding defects in cranial neural crest cell migration. 23 This observation indicated that Tcof1 does not play a role in neural crest cell migration and, furthermore, that aberrant neural crest cell migration is not the underlying cause of TCS.…”

Section: Cellular Basis Of Tcscontrasting

confidence: 85%

“…The teeth may be widely spaced, malpositioned or reduced in number. In a large proportion of cases, the palate is high, arched and occasionally cleft (28%) and in severe cases, the zygomatic arches may be completely absent (Poswillo, 1975). Ophthalmic abnormalities include downward slanting of the palpebral fissures (89%) with notching of the lower eyelids (69%) and a paucity of lid lashes medial to the defect (69%) (Figure 2).…”

Section: Clinical Overviewmentioning

confidence: 99%

“…These early theories included abnormal patterns of neural crest cell migration, 18 abnormal domains of cell death, 19,20 improper cellular differentiation during development 21 or an abnormality of the extracellular matrix; 22 however, there was little experimental evidence to support any of these hypotheses. The integration of molecular biology, cell biology, mouse genetics and experimental embryology has recently provided novel insights into the molecular pathogenesis of TCS.…”

Section: Molecular and Genetic Basis Of The Diseasementioning

confidence: 99%

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Treacher Collins syndrome: etiology, pathogenesis and prevention

2008

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In association withTreacher Collins syndrome: etiology, pathogenesis and prevention Treacher Collins syndrome (TCS) is a rare congenital disorder of craniofacial development that arises as the result of mutations in the TCOF1 gene, which encodes a nucleolar phosphoprotein known as Treacle. Individuals diagnosed with TCS frequently undergo multiple reconstructive surgeries, which are rarely fully corrective. Identifying potential avenues for rescue and/or repair of TCS depends on a profound appreciation of the etiology and pathogenesis of the syndrome. Recent research using animal models has not only determined the cellular basis of TCS but also, more importantly, unveiled a successful avenue for therapeutic intervention and prevention of the craniofacial anomalies observed in TCS.

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Section: Cellular Basis Of Tcscontrasting

confidence: 85%

Section: Clinical Overviewmentioning

confidence: 99%

Section: Molecular and Genetic Basis Of The Diseasementioning

confidence: 99%

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Treacher Collins syndrome: etiology, pathogenesis and prevention

2008

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“…1 The resulting clinical features comprise downslanting palpebral fissures with lower eyelid coloboma, malar and maxilar hypoplasia, malformed ears and conductive hearing loss due to atresia of the external ear canal. 2 The gene underlying this condition, TCOF1, mapped to chromosome 5q32, was cloned in 1996.…”

Section: Introductionmentioning

confidence: 99%

Parental origin of mutations in sporadic cases of Treacher Collins syndrome

et al. 2003

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In some autosomal dominant conditions, there is a correlation between new mutations and paternal age, with new mutations arising almost exclusively in the male germ line. To test this hypothesis in Treacher Collins syndrome, we analyzed 22 sporadic cases, determining the parental origin of the pathogenic mutation in 10 informative families. Mutations were found to be of both paternal and maternal origin, without a detectable parental age effect, confirming that a paternal age effect is not universal to all autosomal dominant disorders. A discussion on the parental origin of mutations and paternal age effect in other diseases is included.

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“…Treacher-Collins syndrome may result from abnormal development of the first and second branchial arch ectodermal placodes (Sulik et al, 1987) or primary interference with neural crest cells (Poswillo, 1975;Willey et al, 1983). Molecular analyses of Treacher-Collins syndrome patients have been developed, and the gene for Treacher-Collins syndrome (TCOFI gene), located on chromosome 5, was identified (The Treacher-Collins Syndrome Collaborative Group, 1996).…”

Section: Discussionmentioning

confidence: 99%