Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1

2018 ◽  
Vol 110 (6) ◽  
pp. 538-542 ◽  
Author(s):  
Séverine Bacrot ◽  
Charlotte Mechler ◽  
Naima Talhi ◽  
Dominique Martin-Coignard ◽  
Philippe Roth ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Pontocerebellar Hypoplasia ◽  
Whole Exome

scholarly journals Case report of ascending colon cancer and multiple jejunal GISTs in a patient with neurofibromatosis type 1 (NF1)

BMC Cancer ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Liang Shang ◽  
Zhen Fang ◽  
Jin Liu ◽  
Fengying Du ◽  
Haiyan Jing ◽  
...  
Keyword(s):  
Colon Cancer ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Ascending Colon ◽  
Malignant Tumours ◽  
Whole Exome ◽  
Ascending Colon Cancer

Abstract Background NF1(Neurofibromatosis type 1) is an autosomal dominant genetic disorder. Patients with NF1 have an increased risk of developing benign or malignant tumours, such as gastrointestinal stromal tumours (GISTs). However, the coexistence of NF1, GIST and colon cancer is very rare, and few cases have been reported in the literature. Case presentation We admitted a case of a 64-year-old man with type 1 neurofibromatosis, GISTs, and ascending colon cancer. This case was characterized by café-au-lait macules, discrete cutaneous neurofibromas, nodular neurofibromas, multiple jejunal tumours, and ascending colon cancer. Laparoscopic exploration revealed ascending colon cancer and multiple jejunal tumours. Laparoscopic right hemicolectomy and local excision of the jejunal tumours were performed successfully. The pathological results confirmed moderate differentiated adenocarcinoma of the ascending colon with multiple jejunal GISTs (low risk, very low risk). Moreover, the immunohistochemistry results of multiple jejunal GISTs suggest that NF1 is positive. Whole-exome sequencing (WES) of colon cancer revealed mutations in more than 20 genes, including KRAS, PIK3CA, APC, SMAD4, etc. The results of whole-exome sequencing (WES) of jejunal GISTs revealed an NF1 mutation and no KIT or PDGFR gene mutation. Conclusion We report a rare case of simultaneous NF1, GIST and colon adenocarcinoma. For patients with NF1, benign and/or malignant tumours are often combined. Therefore, these patients should undergo regular physical examinations so that early detection and early treatment can be achieved.

scholarly journals Identification of NF1 Frameshift Variants in Two Chinese Families With Neurofibromatosis Type 1 and Early-Onset Hypertension

2021 ◽  
Vol 9 ◽  
Author(s):  
Yi-Ting Lu ◽  
Di Zhang ◽  
Xin-Chang Liu ◽  
Qiong-Yu Zhang ◽  
Xue-Qi Dong ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Neurofibromatosis Type 1 ◽  
Early Onset ◽  
Family Members ◽  
Neurofibromatosis Type ◽  
Chinese Families ◽  
Whole Exome

Background: Neurofibromatosis type 1 (NF-1) is a common autosomal dominant disorder caused by mutations in the NF1 gene. It is characterized by multiple café-au-lait macules, cutaneous neurofibromas, optic glioma, Lisch nodules, and axillary and inguinal freckling. The aim of this study was to investigate NF1 mutations in two Chinese families with NF-1 who presented with early-onset hypertension, and to determine the prevalence of hypertension associated with NF-1 to better understand this complication.Methods: Whole-exome sequencing was performed for the probands with NF-1 from two unrelated families. Possible pathogenic mutation was predicted by bioinformatic tools. Sanger sequencing was used to confirm candidate variants in all available individuals for familial co-segregation analysis. We also performed a systematic literature review of studies that reported the prevalence of hypertension in patients with NF-1.Results: In family 1, a recurrent mutation c.6789_6792delTTAC in NF1 was identified in the proband but in no other family members, indicating that this is a de novo mutation. In family 2, a novel mutation c.6934_6936delGCAinsTGCT in NF1 was detected in the proband and two other family members, which co-segregated with the disease phenotype within the family. Both mutations were predicted to be pathogenic by bioinformatic analysis. We found hypertension was a relatively common complication of NF-1, with a prevalence range of 6.1–23.4%. Ambulatory blood pressure monitoring is a stable method for detecting initial alterations of the blood pressure pattern, particularly for pre-hypertension.Conclusions: We identified one recurrent (c.6789_6792delTTAC) and one novel frame-shift mutation (c.6934_6936delGCAinsTGCT) in two unrelated families with NF-1 using whole-exome sequencing. In consideration of phenotypic heterogeneity in NF-1, genetic testing is a robust tool which helps early and accurate diagnosis. Because hypertension is not a rare complication of NF-1, routine screening for hypertension in patients with NF-1, especially children and adolescents, is important to avoid serious cardiovascular events.

scholarly journals 2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family

2018 ◽  
Vol 61 (5) ◽  
pp. 273-279 ◽  
Author(s):  
Mohamed Wafik ◽  
John Taylor ◽  
Tracy Lester ◽  
Richard J. Gibbons ◽  
Deborah J. Shears
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Pontocerebellar Hypoplasia ◽  
Whole Exome ◽  
Turkish Family

scholarly journals Whole-Exome Sequencing as a Diagnostic Tool in a Family With Episodic Ataxia Type 1

2015 ◽  
Vol 90 (3) ◽  
pp. 366-371 ◽  
Author(s):  
Pawel Tacik ◽  
Kimberly J. Guthrie ◽  
Audrey J. Strongosky ◽  
Daniel F. Broderick ◽  
Douglas L. Riegert-Johnson ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Diagnostic Tool ◽  
Episodic Ataxia ◽  
Whole Exome ◽  
Episodic Ataxia Type
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