Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2

Matsuoka, Rumiko; Takao, Atsuyoshi; Kimura, Machiko; Imamura, Shinichiro; Kondo, Chisato; Joh-o, Kunitaka; Ikeda, Kazuo; Nishibatake, Makoto; Ando, Masahiko; Momma, Kazuo

doi:10.1002/ajmg.1320530314

Cited by 150 publications

(66 citation statements)

References 10 publications

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“…14 Furthermore, right aortic arch, pulmonary atresia, or absent pulmonary valve syndrome are common morphological features among TOF patients with 22q11 deletion. 16,17 This high incidence of right aortic arch (50%) and pulmonary atresia (19%) in our patients with marked aortic root dilatation and the relatively common coexistence of absent pulmonary valve syndrome may suggest a possible link between aortic root dilatation and chromosome 22 q11deletion. However, this is purely speculative and we do not have data on phenotypes or chromosomal analysis for our patients.…”

Section: Potential Factors Relating To Late Aortic Root Dilatation Inmentioning

confidence: 60%

Progressive Aortic Root Dilatation in Adults Late After Repair of Tetralogy of Fallot

et al. 2002

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Background-Aortic valve or aortic root (AoRo) replacement is occasionally required because of AoRo dilatation and aortic regurgitation (AR) in repaired tetralogy of Fallot (TOF). We evaluated AoRo size and possible factors associated with its dynamic nature in adults with repaired TOF. Methods and Results-Of 216 patients with TOF repair who underwent echocardiography in 1997, we identified 32 patients (mean age, 36Ϯ8.0 years) with AoRo dilatation, defined as ratio of observed to expected AoRo size by standard nomogram Ͼ1.5 (group A), and 54 TOF controls, matched for age with AoRo ratio Ͻ1.5 (group B), who underwent at least 1 previous echocardiogram in the preceding 10 years. Mean indexed AoRo size (cm/m

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Section: Potential Factors Relating To Late Aortic Root Dilatation Inmentioning

confidence: 60%

Progressive Aortic Root Dilatation in Adults Late After Repair of Tetralogy of Fallot

et al. 2002

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“…Very interesting have been recent studies demonstrating that the genes for the DiGeorge and velocardiofacial syndromes are at the same locus on chromosome 22 (e.g., Driscoll et al, 1992a,b;Weyerts and Jones, 1992). It has also been found that patients initially diagnosed as having the DiGeorge syndrome, and who survive through surgical correction, other therapy, or spontaneous resolution of their lifethreatening abnormalities, become clinically indistinguishable from patients with the velocardiofacial syndrome (Weyerts and Jones, 1992;Matsuoka et al, 1994). The velocardiofacial syndrome was originally described by Shprintzen et al (1978) as consisting of cleft palate (overt or submucous) cono-truncal cardiovascular defects and characteristic facial appearance, but no pha-ryngeal gland problems {i.e., thymus and parathyroid deficiencies).…”

Section: (C) Digeorge Syndromementioning

confidence: 99%

Prenatal Craniofacial Development: New Insights On Normal and Abnormal Mechanisms

Johnston

Bronsky²

1995

Critical Reviews in Oral Biology & Medicine

116

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Technical advances are radically altering our concepts of normal prenatal craniofacial development. These include concepts of germ layer formation, the establishment of the initial head plan in the neural plate, and the manner in which head segmentation is controlled by regulatory (homeobox) gene activity in neuromeres and their derived neural crest cells. There is also a much better appreciation of ways in which new cell associations are established. For example, the associations are achieved by neural crest cells primarily through ceil migration and subsequent cell interactions that regulate induction, growth, programmed cell death, etc. These interactions are mediated primarily by two groups of regulatory molecules, "growth factors" (e.g., FGF and TGFoc) and the so-called steroid/thyroid/retinoic acid superfamily. Considerable advances have been made with respect to our understanding of the mechanisms involved in primary and secondary palate formation, such as growth, morphogenetic movements, and the fusion/merging phenomenon. Much progress has been made on the mechanisms involved in the final differentiation of skeletal tissues.Molecular genetics and animal models for human malformations are providing many insights into abnormal development. A mouse model for the fetal alcohol syndrome (FAS), a mild form of holoprosencephaly, demonstrates a mid-line anterior neural plate deficiency which leads to olfactory placodes being positioned too close to the mid-line, and other secondary changes. Work on animal models for the retinoic acid syndrome (RAS) shows that there is major involvement of neural crest cells. There is also major crest cell involvement in similar syndromes, apparently including hemifacial microsomia. Later administration of retinoic acid prematurely and excessively kills ganglionic placodal cells and leads to a malformation complex virtually identical to the Treacher Collins syndrome. Most clefts of the lip and/or palate appear to have a multifactorial etiology. Genetic variations in TGFocs, RARocs, NADH dehydrogenase, an enzyme involved in oxidative metabolism, and cytochrome P-450, a detoxifying enzyme, have been implicated as contributing genetic factors. Cigarette smoking, with the attendant hypoxia, is a probable contributing environmental factor. It seems likely that few clefts involve single major genes. In most cases, the pathogenesis appears to involve inadequate contact and/or fusion of the facial prominences or palatal shelves. Specific mutations in genes for different FGF receptor molecules have been identified for achondroplasia and Crouzon's syndrome, and in a regulatory gene (Msx2) for one type of craniosynostosis. Poorly co-ordinated control of form and size of structures, or groups of structures (e.g., teeth and jaws), by regulatory genes should do much to explain the very frequent "mismatches" found in malocclusions and other dentofacial "deformities".Future directions for research, including possibilities for prevention, are discussed.

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“…[1][2][3][4][5][6][7][8][9] In addition, deletion studies are now being performed routinely in the face of solitary findings such as velopharyngeal incompetence, cardiac anomalies, immunodeficiency, hypocalcemia, and learning disabilities or mental retardation. 10 -17 The 22q11.2 deletion is quite possibly one of the most common chromosomal disorders in humans.…”

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confidence: 99%

Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net!

McDonald‐McGinn

Tonnesen

Laufer-Cahana

et al. 2001

Genetics in Medicine

277

229

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Purpose: The chromosome 22q11.2 deletion has been identified in the majority of patients with DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly face syndrome and in some patients with the autosomal dominant Opitz G/BBB syndrome and Cayler cardiofacial syndrome. In addition, 22q11.2 deletion studies are becoming part of a standardized diagnostic workup for some isolated defects such as conotruncal cardiac anomalies and velopharyngeal incompetence. However, there is little information available on the clinical findings of unselected patients. For example, those individuals identified during prenatal diagnosis, as part of a generalized screening protocol, or following the diagnosis in a relative. This information will be invaluable in defining the variability of the disorder and in observing long-term outcome in the absence of targeted remediations. This study allows one to examine the first unselected cohort of patients and serves to highlight the importance of deletion testing in parents of affected probands. Methods: Thirty individuals with a 22q11.2 deletion were identified following the diagnosis in a relative. Nineteen were adults ascertained only following the diagnosis in their child, 10 were children identified following the diagnosis in their sibling, and one was a child diagnosed prenatally following the diagnosis in her parent. Results:Sixty percent of patients had no visceral anomalies. In fact, only 6 of the 19 adults (32%) and 6 of the 11 children (55%) had major findings which would have brought them to medical attention. Deletion sizing demonstrated the same large 3-4MB deletion in most families despite wide inter and intrafamilial variability and there was no difference in clinical findings based on the parent of origin. Thus, no genotype-phenotype correlations could be made. Conclusion: We report the first unselected cohort of patients with the 22q11.2 deletion identified through an affected relative. Analysis of this series of 30 patients, many with very mild manifestations of the deletion, allows one to examine the outcome in individuals who lacked specific remediations for this disorder. It emphasizes the importance of broadening the index of suspicion in order to provide appropriate recurrence risk counseling, cognitive remediation, and medical management.Further, it underscores the lack of familial concordance and the current lack of genotype-phenotype correlations in this disorder, and it raises the possibility that the deletion is more common than previously reported. Genetics in Medicine, 2001:3(1):23-29.

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Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2

Cited by 150 publications

References 10 publications

Progressive Aortic Root Dilatation in Adults Late After Repair of Tetralogy of Fallot

Progressive Aortic Root Dilatation in Adults Late After Repair of Tetralogy of Fallot

Prenatal Craniofacial Development: New Insights On Normal and Abnormal Mechanisms

Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net!

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