Isolated Robin sequence associated with a balanced t(2;17) chromosomal translocation

Jamshidi, Negar

doi:10.1136/jmg.2003.010157

Cited by 33 publications

(22 citation statements)

References 40 publications

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“…are part of the sequence, but the severity of airway obstruction varies considerably in infants with PRS [2][3][4]. Severe cases of PRS show respiratory distress owing to glossoptosis resulting in carbon dioxide retention at birth and failure to thrive.…”

mentioning

confidence: 98%

Speech prognosis and need of pharyngeal flap for non syndromic vs syndromic Pierre Robin Sequence

Roessingh¹,

Herzog²,

Cherpillod³

et al. 2008

Journal of Pediatric Surgery

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mentioning

confidence: 98%

Speech prognosis and need of pharyngeal flap for non syndromic vs syndromic Pierre Robin Sequence

Roessingh¹,

Herzog²,

Cherpillod³

et al. 2008

Journal of Pediatric Surgery

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“…Mutations in several collagen genes, including COL2A1, COL11A1 and COL11A2, have been found in subjects with nonsyndromic Pierre Robin Sequence (Melkoniemi et al, 2003), although it has not been established definitively that these mutations are causal for the observed malformations. In addition, chromosomal translocations (Jamshidi et al, 2004), duplications (Ounap et al, 2005) and deletions (Houdayer et al, 2001) have been described that are associated with nonsyndromic Pierre Robin Sequence.…”

Section: Snai1/2-dko Embryos As a Model For Pierre Robin Sequencementioning

confidence: 99%

“…Most newborns with Pierre Robin Sequence also exhibit respiratory and feeding difficulties. Cases of Pierre Robin Sequence are both phenotypically and genetically heterogeneous (Cohen, 1999;Houdayer et al, 2001;Jakobsen et al, 2006;Jamshidi et al, 2004;Melkoniemi et al, 2003;Ounap et al, 2005;Ricks et al, 2002). Pierre Robin Sequence can occur as an isolated nonsyndromic form, or can occur in combination with other syndromes.…”

Section: Snai1/2-dko Embryos As a Model For Pierre Robin Sequencementioning

confidence: 99%

“…Cases of Pierre Robin Sequence are both phenotypically and genetically heterogeneous (Cohen, 1999;Houdayer et al, 2001;Jakobsen et al, 2006;Jamshidi et al, 2004;Melkoniemi et al, 2003;Ounap et al, 2005;Ricks et al, 2002). The association of mandibular defects with palatal clefting has been observed in several mouse models of cleft palate, including Hoxa2 (Gendron-Maguire et al, 1993), Egfr (Miettinen et al, 1999) and Dmm (disproportionate micromelia, a dominant mutant allele of the Col2a1 gene) (Ricks et al, 2002) mutant mice.…”

Section: Introductionmentioning

confidence: 99%

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Multiple functions of Snail family genes during palate development in mice

2007

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Palate development requires precise regulation of gene expression changes,morphogenetic movements and alterations in cell physiology. Defects in any of these processes can result in cleft palate, a common human birth defect. The Snail gene family encodes transcriptional repressors that play essential roles in the growth and patterning of vertebrate embryos. Here we report the functions of Snail (Snai1) and Slug (Snai2) genes during palate development in mice. Snai2-/- mice exhibit cleft palate, which is completely penetrant on a Snai1 heterozygous genetic background. Cleft palate in Snai1+/- Snai2-/-embryos is due to a failure of the elevated palatal shelves to fuse. Furthermore, while tissue-specific deletion of the Snai1 gene in neural crest cells does not cause any obvious defects, neural-crest-specific Snai1 deletion on a Snai2-/- genetic background results in multiple craniofacial defects, including a cleft palate phenotype distinct from that observed in Snai1+/-Snai2-/- embryos. In embryos with neural-crest-specific Snai1 deletion on a Snai2-/- background, palatal clefting results from a failure of Meckel's cartilage to extend the mandible and thereby allow the palatal shelves to elevate, defects similar to those seen in the Pierre Robin Sequence in humans.

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“…All children in our cohort had cleft palate as they were ascertained through the cleft registry. Note that the 2 related children with a balanced t(2; 17) translocation have been previously reported [Jamshidi et al, 2004]. Of the 141 children with nonsyndromic PRS, 83 were classified as having isolated PRS and 58 with PRS-Plus by medical record review ( fig.…”

Section: Resultsmentioning

confidence: 99%

Clinical and Molecular Characterisation of Children with Pierre Robin Sequence and Additional Anomalies

Kilpatrick²,

Baker

et al. 2016

Mol Syndromol

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Pierre Robin Sequence (PRS) is usually classified into syndromic and nonsyndromic groups, with a further subclassification of the nonsyndromic group into isolated PRS and PRS with additional anomalies (PRS-Plus). The aim of this research is to provide an accurate phenotypic characterisation of nonsyndromic PRS, specifically the PRS-Plus subgroup. We sought to examine the frequency of sequence variants in previously defined conserved noncoding elements (CNEs) in the putative enhancer region upstream of SOX9, the regulation of which has been associated with PRS phenotypes. We identified 141 children with nonsyndromic PRS at the Royal Children's Hospital, Melbourne from 1985 to 2012 using 2 databases. Clinical and demographic data were extracted by file review and children categorized as ‘isolated PRS' or ‘PRS-Plus'. A subset of children with PRS-Plus was selected for detailed phenotyping and DNA sequencing of the upstream SOX9 CNEs. We found 83 children with isolated PRS and 58 with PRS-Plus. The most common PRS-Plus malformations involved the musculoskeletal and ocular systems. The most common coexisting craniofacial malformation was choanal stenosis/atresia. We identified 10 children with a family history of PRS or cleft palate. We found a single nucleotide substitution in a putative GATA1-binding site in one patient, but it was inherited from his phenotypically unaffected mother. PRS-Plus represents a broad phenotypic spectrum with uncertain pathogenesis. Dysmorphology assessment by a clinical geneticist is recommended. SOX9 CNE sequence variants are rare in our cohort and are unlikely to play a significant role in the pathogenesis of PRS-Plus.

show abstract

Isolated Robin sequence associated with a balanced t(2;17) chromosomal translocation

Cited by 33 publications

References 40 publications

Speech prognosis and need of pharyngeal flap for non syndromic vs syndromic Pierre Robin Sequence

Speech prognosis and need of pharyngeal flap for non syndromic vs syndromic Pierre Robin Sequence

Multiple functions of Snail family genes during palate development in mice

Clinical and Molecular Characterisation of Children with Pierre Robin Sequence and Additional Anomalies

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