Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5

Kobayashi, Tatsunori; Narahara, Kouji; Yokoyama, Yuji; Ueyama, Satoshi; Mohri, Osamu; Fujii, Tomoyuki; Fujimoto, Makoto; Ohtsuki, Shin-Itchi; Tsuji, Kyoko; Seino, Yoshiki

doi:10.1002/ajmg.1320410416

Cited by 37 publications

(27 citation statements)

References 21 publications

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“…Our results, in agreement with most studies, indicate that patients with germline APC deletions show a 'classical' FAP phenotype with more than 100 adenomatous polyps, presence of CHRPE, and onset age of about 25-35 years. 10,11,13,15,18 This indicates that the 'null allele' in patients bearing APC gene deletions and dominant negative alleles are equivalent in respect of their phenotypic consequences. However, the putative dominant-negative mechanism cannot be applied to the 'classical' phenotype observed in patients bearing large deletions.…”

Section: Discussionmentioning

confidence: 99%

“…[6][7][8] Due to the inherent difficulty in detecting gene deletions, interstitial 5q deletions that encompass the APC gene have been identified in very few FAP patients. [9][10][11][12][13][14][15][16] So far, large deletions account for about 2% of the identified germline mutations. An intragenic APC deletion of 300 bp has recently been described in an Italian polyposis patient.…”

Section: Introductionmentioning

confidence: 99%

“…[9][10][11][12][13][14][15][16]18 Mental retardation and/or facial dysmorphism have also been described. [10][11][12][13][14] Within these cases the frequency of extracolonic manifestations, including subcutaneous lesions, mandibular osteomata and desmoid tumours, are similar to those observed in FAP induced by other types of mutation. 14 Here we describe three FAP families with 5q submicroscopic deletions encompassing the APC and DP1 genes.…”

Section: Introductionmentioning

confidence: 99%

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Three submicroscopic deletions at the APC locus and their rapid detection by quantitative-PCR analysis

et al. 1999

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We describe three unrelated kindreds, affected by familial adenomatous polyposis (FAP), with 5q submicroscopic deletions that encompass the entire adenomatous polyposis coli (APC) gene and the adjacent DP1 gene. In one family the deletion encompasses also the MCC (mutated in colon cancer) gene. Affected members of these families had dysplastic adenomatous polyps and congenital hypertrophy of the retinal pigment epithelium (CHRPE); no individual was affected by mental retardation or facial dysmorphism. The deletions were detected by linkage analysis with several intragenic and closely flanking polymorphic markers and confirmed by a quantitative PCR analysis. This procedure could have an impact on the detection of the molecular defect in FAP patients in whom mutational analysis fails to identify the specific mutation.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Three submicroscopic deletions at the APC locus and their rapid detection by quantitative-PCR analysis

et al. 1999

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“…There were four cases reported with such deletion (Table II); a fifth case with interstitial deletion of the same region was reported by Kadotani et al [1979], but high resolution analysis subsequently showed a deletion of (q22.1 → q31.1) [Kobayashi et al,1991]. We have to take into account that in two of these four cases [Silengo et al,1981;Harprecht-Beato et al,1983] the breakpoints also were rather ill defined.…”

Section: Interstitial Deletion Involving the Same Region As In This Fmentioning

confidence: 80%

Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly

et al. 1998

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Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) in a 30-year-old woman is reported. At 21 weeks of pregnancy, routine fetal ultrasounds showed the presence of apparently isolated bilateral club feet. Fetal karyotyping documented an interstitial deletion of the long arm of chromosome 5: 46,XX,del(5) (q15q31) in all 50 analyzed metaphases. Because such deletion is associated with severe psychomotor retardation, the pregnancy was terminated. Postmortem karyotyping of skin fibroblasts confirmed the presence of this interstitial de novo deletion in all mitoses. The breakpoints on 5q were analyzed by fluorescent in situ hybridization and were localized at 5q15 and q31.1. This case illustrates the importance of fetal karyotyping in cases of isolated club feet. At autopsy, the fetus presented had minor anomalies and contractures of knee and hip joints. These clinical findings could fit the diagnosis of congenital contractural arachnodactyly (CCA) or Beals syndrome. CCA is caused by a defect in the fibrillin-2 (FBN2) gene. This gene was previously mapped on 5q23-31. Our molecular studies of both parents and the fetus, using an intragenic polymorphic GT repeat, showed that the FBN2 gene was deleted in the fetus and that the de novo interstitial deletion occurred on the paternally inherited chromosome 5. Thus, CCA may be caused by a loss of function of the FBN2 gene. Clinical findings in this fetus and those of other described cases with interstitial 5q deletions are reviewed, and similarities with CCA are stressed.

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“…Several chromosome deletions associated with hemivertebrae have previously been reported. They include del(1q4) [Johnson et al, 1985], del(3p2) [Fineman et al, 1978], monosomy 4p [Stengel-Rutkowski et al, 1984], interstitial 5q-deletion [Kobayashi et al, 1991], r(15) [Butler et al, 1988], and interstitial deletion of 17p [Smith et al, 1986]. Some patients with Smith-Magenis syndrome (SMS) who showed a deletion involving a chromosomal region, 17p11.2, also had congenital scoliosis [Smith et al, 1986].…”

Section: Discussionmentioning

confidence: 98%

Congenital scoliosis (hemivertebra) associated with de novo balanced reciprocal translocation, 46,XX,t(13;17)(q34;p11.2)

et al. 1997

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We report on an 8-year-old girl with congenital scoliosis (segmented hemivertebra between the second and third lumbar vertebrae) and psychomotor developmental delay. She has a de novo reciprocal translocation, t(13;17)(q34;p11.2). Congenital scoliosis is one type of structural spine deformation and hemivertebra is the most common anomaly causing congenital scoliosis. The cause and the mode of inheritance of hemivertebrae are unknown. Our patient has a de novo balanced chromosome aberration and retains two copies of the LLGL gene, which is usually lacking in patients with Smith-Magenis syndrome (SMS). Since some SMS patients who showed a deletion at 17p11.2 had congenital scoliosis, it is likely that one (17p11.2) of the breakpoints in our patient is a candidate region for a hemivertebra locus.

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Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5

Cited by 37 publications

References 21 publications

Three submicroscopic deletions at the APC locus and their rapid detection by quantitative-PCR analysis

Three submicroscopic deletions at the APC locus and their rapid detection by quantitative-PCR analysis

Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly

Congenital scoliosis (hemivertebra) associated with de novo balanced reciprocal translocation, 46,XX,t(13;17)(q34;p11.2)

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