Prenatal Diagnosis for Restrictive Dermopathy Caused by Novel Mutations in ZMPSTE24 Gene and Review of Clinical Features and Pathogenic Mutations Described in Literatures

2020 ◽  
Vol 2 (3) ◽  
pp. 257-264
Author(s):  
Yunan Wang ◽  
Chang Liu ◽  
Mingqin Mai ◽  
Hongke Ding ◽  
Yanlin Huang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Clinical Features ◽  
Novel Mutations ◽  
Pathogenic Mutations ◽  
Restrictive Dermopathy

Clinical, cellular, and molecular characterisation of cardiac rhabdomyoma in tuberous sclerosis

2021 ◽  
pp. 1-9
Author(s):  
Hamood N. Al Kindi ◽  
Ayman M. Ibrahim ◽  
Mohamed Roshdy ◽  
Besra S. Abdelghany ◽  
Dina Yehia ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Clinical Features ◽  
Tuberous Sclerosis Complex ◽  
Potential Role ◽  
Severe Disease ◽  
Cardiac Rhabdomyoma ◽  
Urgent Surgery ◽  
Pathogenic Mutations ◽  
Personalised Treatment

Abstract Background: Rhabdomyoma is the most common cardiac tumour in children. It is usually associated with tuberous sclerosis complex caused by mutations in TSC-1 or TSC-2 genes. This tumour typically regresses by unknown mechanisms; however, it may cause inflow or outflow obstruction that necessitates urgent surgery. Here we investigate the clinical features and the genetic analysis of patients with tuberous sclerosis complex presenting with large rhabdomyoma tumours. We also investigate the potential role of autophagy and apoptosis in the pathogenesis of this tumour. Methods: All the patients with cardiac rhabdomyoma referred to Aswan Heart Centre from 2010 to 2018 were included in this study. Sanger sequencing was performed for coding exons and the flanking intronic regions of TSC1 and TSC2 genes. Histopathological evaluation, immunohistochemistry, and western blotting were performed with P62, LC3b, caspase3, and caspase7, to evaluate autophagic and apoptotic signaling. Results: Five patients were included and had the clinical features of tuberous sclerosis complex. Three patients, who were having obstructive tumours, were found to have pathogenic mutations in TSC-2. The expression of two autophagic markers, P62 and LC3b, and two apoptotic markers, caspase3 and caspase7, were increased in the tumour cells compared to normal surrounding myocardial tissue. Conclusion: All the patients with rhabdomyoma were diagnosed to have tuberous sclerosis complex. The patients who had pathogenic mutations in the TSC-2 gene had a severe disease form necessitating urgent intervention. We also demonstrate the potential role of autophagy and apoptosis as a possible mechanism for tumourigenesis and regression. Future studies will help in designing personalised treatment for cardiac rhabdomyoma.

Trisomy 18 in neonates: prenatal diagnosis, clinical features, therapeutic dilemmas and outcome

2006 ◽  
Vol 47 (2) ◽  
pp. 165-170 ◽  
Author(s):  
Barbara Goc ◽  
Zofia Walencka ◽  
Agata Włoch ◽  
Ewa Wojciechowska ◽  
Danuta Więcek-Włodarska ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Clinical Features ◽  
Trisomy 18

scholarly journals Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe

2014 ◽  
Vol 23 (6) ◽  
pp. 746-752 ◽  
Author(s):  
Ingeborg Barisic ◽  
Ljubica Boban ◽  
Maria Loane ◽  
Ester Garne ◽  
Diana Wellesley ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Clinical Features ◽  
Population Based ◽  
Population Based Study

Male infertility and androgen receptor gene mutations: clinical features and identification of seven novel mutations

2006 ◽  
Vol 65 (5) ◽  
pp. 606-610 ◽  
Author(s):  
Alberto Ferlin ◽  
Cinzia Vinanzi ◽  
Andrea Garolla ◽  
Riccardo Selice ◽  
Daniela Zuccarello ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Male Infertility ◽  
Clinical Features ◽  
Receptor Gene ◽  
Gene Mutations ◽  
Androgen Receptor Gene ◽  
Novel Mutations

Prenatal Diagnosis of Cockayne Syndrome Type A Based on the Identification of Two Novel Mutations in the ERCC8 Gene

2009 ◽  
Vol 13 (1) ◽  
pp. 127-131 ◽  
Author(s):  
Chiara Conte ◽  
Maria Rosaria D'Apice ◽  
Annalisa Botta ◽  
Federica Sangiuolo ◽  
Giuseppe Novelli
Keyword(s):  
Prenatal Diagnosis ◽  
Type A ◽  
Cockayne Syndrome ◽  
Syndrome Type ◽  
Novel Mutations

Prevalence of GJB2 gene mutation in 330 cochlear implant patients in the Jiangsu province

2016 ◽  
Vol 130 (10) ◽  
pp. 902-906 ◽  
Author(s):  
L Shi ◽  
J Chen ◽  
J Li ◽  
X Wei ◽  
X Gao
Keyword(s):  
Hearing Loss ◽  
Cochlear Implant ◽  
Gene Mutation ◽  
Cochlear Implantation ◽  
Gene Mutations ◽  
Jiangsu Province ◽  
Gjb2 Gene ◽  
Novel Mutations ◽  
Pathogenic Mutations

AbstractObjective:GJB2 gene mutations are highly prevalent in pre-lingual hearing loss patients from China. Pre-lingual deafness is a sensorineural disorder that can only be treated with cochlear implantation.Method:The prevalence of GJB2 gene mutations was examined in 330 randomly selected patients treated with cochlear implantation.Results:Overall, 276 patients (83.64 per cent) carried variations in the GJB2 gene. Seventeen different genotypes were identified, including 10 confirmed pathogenic mutations (c.235delC, c.299delAT, c.176del16, p.E47X, p.T123N, p.V167M, p.C218Y, p.T86R, p.V63L and p.R184Q), 3 polymorphisms (p.V27I, p.E114 G and p.I203 T) and 2 unidentified mutations (p.V37I and c.571 T > C).Conclusion:A total of 103 patients (31.2 per cent) carried 2 confirmed pathogenic mutations. The frequency of c.235delC was higher than that reported previously in the Jiangsu province. The two novel mutations identified, 69C > G and 501G > A, are likely to be polymorphisms.

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