Bilateral renal tumors in an adult man with Smith-Magenis syndrome: The role of the FLCN gene

Dardour, Leila; Verleyen, Pieter; Lesage, Karl; Holvoet, Maureen; Devriendt, Koenraad

doi:10.1016/j.ejmg.2016.09.005

Cited by 16 publications

(15 citation statements)

References 11 publications

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“…Coincidentally, FLCN is among dozens of genes included within the 17p11.2 chromosomal region recurrently deleted in 90% of patients with Smith-Magenis syndrome (SMS), a well-described neurodevelopmental disorder (Finucane & Haas-Givler, 2009). Although most individuals with SMS are haploinsufficient for FLCN, there have been very few published reports of BHD phenotypes in SMS (Dardour et al, 2016;Smith et al, 2014;Truong et al, 2010). This limited description is not surprising given the clinical focus on SMS as a pediatric disorder; however, its potential association with BHD phenotypes has important long-term implications for medical surveillance.…”

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confidence: 99%

Birt‐Hogg‐Dubé symptoms in Smith‐Magenis syndrome include pediatric‐onset pneumothorax

Finucane

Savatt

Shimelis

et al. 2021

American J of Med Genetics Pt A

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confidence: 99%

Birt‐Hogg‐Dubé symptoms in Smith‐Magenis syndrome include pediatric‐onset pneumothorax

Finucane

Savatt

Shimelis

et al. 2021

American J of Med Genetics Pt A

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“…They are also more likely to exhibit overeating and overgrowth phenotypes, polyembolokoilamania, self hugging, muscle cramping, and dry skin compared with patients with deletions [6]. Although RAI1 was shown to be responsible for most SMS/PLTS features, other genes in the 17p11.2 region also contribute to the variability and severity of the phenotype in 17p11.2 deletion/duplication cases [23][24][25][26].…”

Section: Discussionmentioning

confidence: 99%

Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findings

Zhang

Liu

Gao

et al. 2021

Preprint

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Background: Deletion and duplication of the -3.7 Mb region in 17p11.2 result in two reciprocal syndromes, Smith-Magenis syndrome and Potocki-Lupski syndrome, which are well-known development disorders. The purpose of this study is to identify the prevalence, genetic characteristics and clinical phenotype of 17p11.2 deletion/duplication in Chinese children with development delay and in fetuses with potential congenital defects.Methods: 7077 children with development delay and/or intellectual disability were screened by multiplex ligation-dependent probe amplification (MLPA) P245 assay. 7319 fetuses with potential congenital defects were detected using next generation sequencing (NGS) technique.Results: 417 of 7077 children patients were identified to carry chromosome imbalance. Among them, 28 (28/7077, 0.4 %) cases had imbalance at chromosome 17p11.2, of which 12 cases (42.9 %) had heterozygous deletions and 16 (57.1 %) had heterogeneous duplications. The phenotypes of these 28 children were variable, including neurobehavioral disorders, craniofacial/skeletal anomalies, immunologic defects, ocular problems, and organ malformations. 263 of 7319 fetuses were recognized to have genomic copy number variations (CNV). Only 2 of them were found to harbor 17p11.2 imbalance. The fetus with deletion presented with ventricular septal defect and the fetus with reciprocal duplication had cerebral ventricle dilation.Conclusion: Our study highlights the phenotypic variability associated with 17p11.2 variations in China. The results further expand the phenotypic spectrum of SMS/PTLS and increase awareness of these disruptive mutations among clinicians.

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“…Germline mutations in FLCN cause Birt-Hogg-Dube (BHD) syndrome, which is characterised by the appearance of fibrofolliculomas from the third decade and renal cell carcinoma in about 25%–30% of cases 42. RCC has been described in patients with SMS,43 but the precise risk of RCC in patients with SMS with FLCN loss is unclear and further information is required to determine whether surveillance for RCC should be offered routinely. Nevertheless, in the presence of lung cysts or fibrofolliculomas (which on average precede RCC in BHD syndrome), it would seem prudent to do so.…”

Section: Discussionmentioning

confidence: 99%

CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing

et al. 2017

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Incidental identification of a CNV involving a CPG is not rare and poses challenges for future cancer risk estimation. Prospective data collection from CPG-CNV cohorts ascertained incidentally and through syndromic presentations is required to determine the risks posed by specific CNVs. In particular, ascertainment and investigation of adults with CPG-CNVs and adults with learning disability and cancer, could provide important information to guide clinical management and surveillance.

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Bilateral renal tumors in an adult man with Smith-Magenis syndrome: The role of the FLCN gene

Cited by 16 publications

References 11 publications

Birt‐Hogg‐Dubé symptoms in Smith‐Magenis syndrome include pediatric‐onset pneumothorax

Birt‐Hogg‐Dubé symptoms in Smith‐Magenis syndrome include pediatric‐onset pneumothorax

Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findings

CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing

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