Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome

Matsuoka, Rumiko; Kimura, Machiko; Scambler, Peter J.; Morrow, Bernice E.; Imamura, Shin Ichiro; Minoshima, Shinsei; Shimizu, Nobuyoshi; Yamagishi, Hiroyuki; Joh-o, Kunitaka; Watanabe, Seiichi; Oyama, Kotaro; Saji, Tsutomu; Ando, Masahiko; Takao, Atsuyoshi; Momma, Kazuo

doi:10.1007/s004390050786

Cited by 110 publications

(95 citation statements)

References 26 publications

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“…1, Table 1). Variants of 3 Mb deletions have been reported previously (Matsuoka et al 1998;Saitta et al 2004;Urban et al 2006). It appears likely though that, due to lower resolution methods, some of the "common 3 Mb deletions" reported in previous studies may have included both the most common 3.1 Mb deletion as well as the type variants found in our study.…”

Section: Common Deletion Variants and Recurrent Breakpoint Regionsmentioning

confidence: 91%

Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome

et al. 2006

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22q11 Deletion syndrome (22q11DS) is a common microdeletion syndrome with variable expression, including congenital and later onset conditions such as schizophrenia. Most studies indicate that expression does not appear to be related to length of the deletion but there is limited information on the endpoints of even the common deletion breakpoint regions in adults. We used a real-time quantitative PCR (qPCR) approach to fine map 22q11.2 deletions in 44 adults with 22q11DS, 22 with schizophrenia (SZ; 12 M, 10 F; mean age 35.7 SD 8.0 years) and 22 with no history of psychosis (NP; 8 M, 14 F; mean age 27.1 SD 8.6 years). QPCR data were consistent with clinical FISH results using the TUPLE1 or N25 probes. Two subjects (one SZ, one NP) negative for clinical FISH had atypical 22q11.2 deletions confirmed by FISH using the RP11-138C22 probe. Most (n = 34; 18 SZ, 16 NP) subjects shared a common 3 Mb hemizygous 22q11.2 deletion. However, eight subjects showed breakpoint variability: a more telomeric proximal breakpoint (n = 2), or more centromeric (n = 3) or more telomeric distal breakpoint (n = 3). One NP subject had a proximal nested 1.4 Mb deletion. COMT and TBX1 were deleted in all 44 subjects, and PRODH in 40 subjects (19 SZ, 21 NP). The results delineate proximal and distal breakpoint variants in 22q11DS. Neither deletion extent nor PRODH haploinsufficiency appeared to explain the clinical expression of schizophrenia in the present study. Further studies are needed to elucidate the molecular basis of schizophrenia and clinical heterogeneity in 22q11DS.

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Section: Common Deletion Variants and Recurrent Breakpoint Regionsmentioning

confidence: 91%

Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome

et al. 2006

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“…1). 17 Medical records of these 34 patients were reviewed. Congenital heart diseases were diagnosed by echocardiography, cardiac catheterization and angiocardiography.…”

Section: Methodsmentioning

confidence: 99%

Tetralogy of Fallot associated with chromosome 22q11.2 deletion in adolescents and young adults

Momma

Takao

Matsuoka

et al. 2001

Genetics in Medicine

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Purpose: To clarify the clinical profiles of adolescents and young adults with tetralogy and 22q11.2 deletion, which has recently been identified as a cause of tetralogy of Fallot in about 15% of patients. Methods: Thirty-four patients with 22q11.2 deletion and tetralogy of Fallot, with or without pulmonary atresia, including 15 males and 19 females, with their age ranging from 16 to 35 years (mean ϭ 25) were studied. Main outcome measurements include chromosome deletion identified by fluorescence in situ hybridization (FISH) of peripheral blood lymphocytes, medical states assessed with New York Heart Association classification, social activity assessed with Warnes index, IQ assessed by Wechsler test. Results: Eighteen of 20 patients with tetralogy and pulmonary stenosis had cardiac repair, and their cardiac conditions were good except one. Of 14 patients with tetralogy with pulmonary atresia, 7 had Rastelli type cardiac repair and were doing well, although 4 of them needed re-operation for conduit stenosis. No cardiac repair was done in the other 7 patients with tetralogy, pulmonary atresia and major collateral arteries because their peripheral pulmonary arteries were too small. In 28 of the 34 patients (82%), overall social activity was limited because of extracardiac diseases, including deafness, club feet, mental retardation, and schizophrenia. The IQ in 17 patients was 59 Ϯ 13 (mean Ϯ SD): range 41 to 79. In two patients, repeated IQ study showed a decrease. Four patients developed schizophrenia. Conclusion: Tetralogy with 22q11 deletion can be repaired surgically except in those patients with pulmonary atresia, major collateral arteries, and small peripheral pulmonary arteries. However, most of the adult patients show an inability to function in social life in contrast to most patients with tetralogy but without the deletion, who have a normal social life. Extracardiac diseases, including deafness, club feet, mental retardation, and schizophrenia were major handicaps limiting full social activities in postoperative adolescents and young adults with 22q11.2 deletion and tetralogy. Genetics in About 15% of patients with tetralogy of Fallot have deletion of chromosome 22q11.2. 1,2 The incidence of deletion is higher in tetralogy of Fallot with pulmonary atresia. About 50% of patients with tetralogy of Fallot, pulmonary atresia, and major aortopulmonary collateral artery show deletion of chromosome 22q11.2. 4 Tetralogy of Fallot with the deletion is usually associated with additional anomalies of the aortic arch, its branches, the pulmonary artery, and the ductus arteriosus. [5][6][7] . In addition, extracardiac anomalies, 8,9 progressive mental retardation 10,11 and development of psychiatric disease in adolescents [12][13][14][15][16] are additional clinical features of the deletion. Therefore, long-term prognosis of patients with tetralogy and the deletion is an issue to be clarified. To shed further light on this issue, clinical profiles of adolescents and young adults with tetralogy of Fallot and the dele...

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“…The "classic" CVMs occurring in patients with deletion 22q11 are conotruncal defects, [2][3][4][5][6][7][8][9][10] including tetralogy of Fallot (TF), pulmonary atresia with ventricular septal defect (PA-VSD), truncus arteriosus (TA) and interrupted aortic arch (IAA), but also ventricular septal defect was commonly described. However, in children with this syndrome, other types of CVM were occasionally reported, including atrial septal defect, atrioventricular canal, tricuspid atresia, transposition of the great arteries, hypoplastic left ventricle, heterotaxy, aortic coarctation, vascular rings, and other anomalies of the aortic arch.…”

mentioning

confidence: 99%

“…However, in children with this syndrome, other types of CVM were occasionally reported, including atrial septal defect, atrioventricular canal, tricuspid atresia, transposition of the great arteries, hypoplastic left ventricle, heterotaxy, aortic coarctation, vascular rings, and other anomalies of the aortic arch. [1][2][3][4][5][6][7][8][9][10][11][12][13][14] The accurate study of cardiac phenotype revealed that additional CVMs are common in children with conotruncal defects and deletion 22q11 so that distinctive patterns could be recognized in patients with this syndrome as well as were recognized in patients with other genetic syndromes. [15][16][17][18] In this report, we summarize our experience and the cardiac anatomy in children with conotruncal defects and deletion 22q11, describing the association with phenotypical findings.…”

mentioning

confidence: 99%

Anatomic patterns of conotruncal defects associated with deletion 22q11

Marino

Digilio

Toscano

et al. 2001

Genetics in Medicine

135

103

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without dysmorphic features had deletion 22q11. Conotruncal heart defects were the most common CVMs, often presenting in association with additional anomalies in four areas of the cardiovascular system: (1) the aortic arch can be right sided, cervical, double, and the subclavian artery can be aberrant, (2) the pulmonary arteries can present discontinuity, diffuse hypoplasia, discrete stenosis, defect of arborization and major aortopulmonary collateral arteries (MAPCA), (3) the infundibular septum can be malaligned, hypoplastic, or absent, (4) the semilunar valves can be bicuspid, severely dysplastic, insufficient, or stenotic. Conclusion: In subjects with deletion 22q11 CVM is virtually always associated with one or more noncardiac anomalies. Deletion 22q11 is exceptionally rare in children with nonsyndromic CVMs. Specific patterns of CVMs are observed in patients with deletion 22q11, including (1) anomalies of the aortic arch, (2) anomalies of the pulmonary arteries and of the pulmonary blood supply, (3) defects of the infundibular septum, (4) malformations of the semilunar valves. These additional CVMs may influence the surgical treatment of these patients. Genetics in Medicine, 2001:3(1):45-48.

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Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome

Cited by 110 publications

References 26 publications

Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome

Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome

Tetralogy of Fallot associated with chromosome 22q11.2 deletion in adolescents and young adults

Anatomic patterns of conotruncal defects associated with deletion 22q11

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