Williams-Beuren Syndrome and Burkitt Leukemia

Zhukova, Nataliya; Naqvi, Ahmed

doi:10.1097/mph.0b013e318270672f

Cited by 14 publications

(12 citation statements)

References 21 publications

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“…This was also the case among our study subjects and as expected seven out of 25 subjects died during the follow‐up. Cardiovascular disease associated with diabetes type 2 was the most common cause of death and malignant disorder the second most common; this is in line with earlier reports (Pober, ; Zhukova & Naqvi, ). In Finland, the most common causes of death at population are cardiovascular diseases and cancer in people aged over 60 years (Official Statistics of Finland, ).…”

Section: Discussionsupporting

confidence: 91%

Cognition in adults with Williams syndrome—A 20‐year follow‐up study

Sauna‐aho

Bjelogrlic-Laakso

Siren

et al. 2019

Molec Gen & Gen Med

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Background Williams syndrome (WBS) is a genetic multisystem disorder. The main symptom is borderline (intelligence quotient, IQ 70–79) or abnormally low intelligence (IQ < 70). According to earlier studies young individuals with WBS demonstrate generally a slightly higher verbal IQ (VIQ) compared to performance/nonverbal IQ (PIQ). WBS was recognized as a distinct entity already about 60 years ago, but still cognition in adults with WBS is poorly known. Methods We followed 25 adults (age at baseline 19–68, median 38) with genetically confirmed WBS for about 20 years. The study subjects underwent medical and neuropsychological assessments at the baseline and at the end of follow‐up. Results The mean VIQ remained quite stable from early adulthood up to 40 years of age after which it declined. The mean PIQ kept on improving from early adulthood until 50 years of age after which it gradually declined. At the end of the study, all study subjects had at least two longstanding health problems out of which hypertension, psychiatric disorder, and scoliosis or kyphosis occurred most frequently. At end of the study, two patients suffered from vascular dementia. Seven patients died during the follow‐up. Conclusions In adults with WBS, the course of cognition is uneven across the cognitive profile. Their verbal functions both develop and deteriorate earlier than performance/nonverbal functions. Frequent somatic co‐morbidities may increase risk to shortened life span.

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Section: Discussionsupporting

confidence: 91%

Cognition in adults with Williams syndrome—A 20‐year follow‐up study

Sauna‐aho

Bjelogrlic-Laakso

Siren

et al. 2019

Molec Gen & Gen Med

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“…Although previous studies have revealed the genetic backgrounds of certain types of cancer—for example, the MSH2 gene in familial nonpolyposis colon cancer [58] , the BRCA1 gene in familial breast cancer [59] – [61] , the APC gene in hereditary adenomatous polyposis [62] , [63] , and the RB gene in retinoblastoma [64] , [65] —the functional mechanisms leading to cancer initiation, progression and development remain to be elucidated. BCL7B , located on chromosome 7, is a member of the BCL7 family of genes and is thought to be a tumor-associated gene [7] – [9] . In this study, we investigated the functional roles of the bcl-7 and BCL7B genes in the Wnt signaling pathway and apoptosis in C. elegans and in human gastric cancer cells, respectively.…”

Section: Discussionmentioning

confidence: 99%

“…WBS patients show a variety of phenotypes, including elfin face, mental retardation, reduced spatial reasoning capacity, supravalvular aortic stenosis, and peripheral pulmonic stenosis. In the past three decades, several reports have described the occurrence of malignant diseases in WBS patients [5] – [9] . These reports have shown that patients with WBS are at an increased risk of malignant transformation due to aberrations in candidate genes, such as BCL7B .…”

Section: Introductionmentioning

confidence: 99%

The Tumor Suppressor BCL7B Functions in the Wnt Signaling Pathway

et al. 2015

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Human BCL7 gene family consists of BCL7A, BCL7B, and BCL7C. A number of clinical studies have reported that BCL7 family is involved in cancer incidence, progression, and development. Among them, BCL7B, located on chromosome 7q11.23, is one of the deleted genes in patients with Williams-Beuren syndrome. Although several studies have suggested that malignant diseases occurring in patients with Williams-Beuren syndrome are associated with aberrations in BCL7B, little is known regarding the function of this gene at the cellular level. In this study, we focused on bcl-7, which is the only homolog of BCL7 gene family in Caenorhabditis elegans, and analyzed bcl-7 deletion mutants. As a result, we found that bcl-7 is required for the asymmetric differentiation of epithelial seam cells, which have self-renewal properties as stem cells and divide asymmetrically through the WNT pathway. Distal tip cell development, which is regulated by the WNT pathway in Caenorhabditis elegans, was also affected in bcl-7-knockout mutants. Interestingly, bcl-7 mutants exhibited nuclear enlargement, reminiscent of the anaplastic features of malignant cells. Furthermore, in KATOIII human gastric cancer cells, BCL7B knockdown induced nuclear enlargement, promoted the multinuclei phenotype and suppressed cell death. In addition, this study showed that BCL7B negatively regulates the Wnt-signaling pathway and positively regulates the apoptotic pathway. Taken together, our data indicate that BCL7B/BCL-7 has some roles in maintaining the structure of nuclei and is involved in the modulation of multiple pathways, including Wnt and apoptosis. This study may implicate a risk of malignancies with BCL7B-deficiency, such as Williams-Beuren syndrome.

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“…[1,7] Case reports of malignancies in patients with WBS include lymphoid, myeloid, and nonepithelial cancers but no susceptibility loci have been identified. [2,[7][8][9] Uncertain association of malignancies and WBS could be explained by its low prevalence (1/7,500-1/20,000 births) and possible unrecognized WBS cases. [10] WT is genetically heterogeneous, with mutations in WT1, WTX, CTNNB1, and TP53 in only one-third of cases.…”

Section: Letter To the Editor Twins With Williams-beuren Syndrome Andmentioning

confidence: 99%

“…Some genes in WBSCR are involved in regulation of cell proliferation and differentiation, which could predispose to neoplasia in WBS . Case reports of malignancies in patients with WBS include lymphoid, myeloid, and nonepithelial cancers but no susceptibility loci have been identified . Uncertain association of malignancies and WBS could be explained by its low prevalence (1/7,500–1/20,000 births) and possible unrecognized WBS cases …”

mentioning

confidence: 99%