scholarly journals Targeted next-generation sequencing approach for molecular genetic diagnosis of hereditary colorectal cancer: Identification of a novel single nucleotide germline insertion in adenomatous polyposis coli gene causes familial adenomatous polyposis

2018 ◽  
Vol 7 (1) ◽  
pp. e00505 ◽  
Author(s):  
Dan Wang ◽  
Shengyun Liang ◽  
Xipeng Zhang ◽  
Subrata Kumar Dey ◽  
Yuwei Li ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Adenomatous Polyposis Coli Gene ◽  
Hereditary Colorectal Cancer ◽  
Adenomatous Polyposis ◽  
Polyposis Coli ◽  
Single Nucleotide ◽  
Targeted Next Generation Sequencing ◽  
Molecular Genetic Diagnosis ◽  
Generation Sequencing

Molecular genetic diagnosis by next-generation sequencing in a cohort of Mexican patients with haemophilia and report of novel variants

2020 ◽  
Vol 83 ◽  
pp. 102423 ◽  
Author(s):  
Laura Villarreal-Martínez ◽  
Marisol Ibarra-Ramirez ◽  
Geovana Calvo-Anguiano ◽  
José de Jesús Lugo-Trampe ◽  
Hilda Luna-Záizar ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Next Generation ◽  
Novel Variants ◽  
Molecular Genetic Diagnosis ◽  
Generation Sequencing ◽  
Mexican Patients

scholarly journals The H-syndrome and next generation sequencing for molecular genetic diagnosis

2014 ◽  
Author(s):  
Nihal Thomas ◽  
D M Mahesh ◽  
Aaron Chapla ◽  
H S Asha ◽  
Shrinath Shetty ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Next Generation ◽  
Molecular Genetic Diagnosis ◽  
Generation Sequencing

Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism

2020 ◽  
Vol 33 (6) ◽  
pp. 691-701 ◽  
Author(s):  
Tatsushi Tanaka ◽  
Kohei Aoyama ◽  
Atsushi Suzuki ◽  
Shinji Saitoh ◽  
Haruo Mizuno
Keyword(s):  
Congenital Hypothyroidism ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Japanese Patients ◽  
Thyroid Stimulating Hormone ◽  
Allelic Variant ◽  
Genetic Investigation ◽  
Pathogenic Variants ◽  
Recessive Genes ◽  
Molecular Genetic Diagnosis

AbstractObjectivesCongenital hypothyroidism (CH) is the most common congenital endocrine disorder. Recent advances in genetic testing have revealed its causative mutations in some CH patients. However, the underlying etiology remains unknown in most patients. This study aimed to perform clinical and genetic investigation in Japanese CH patients to uncover genotype-phenotype correlations.MethodsWe enrolled 136 Japanese patients with transient or permanent CH between April 2015 and March 2017, and performed next-generation sequencing of 19 genes implicated in CH.ResultsWe identified potentially pathogenic bi-allelic variants in DUOX2, TSHR, and TPO in 19, 5, and 1 patient, respectively (autosomal recessive), and a potentially pathogenic mono-allelic variant in NKX2-1 (autosomal dominant) in 1 patient. Molecular genetic diagnosis was highly suggested in 26 patients (19%) from 23 families. We also detected a potentially pathogenic mono-allelic variant in five recessive genes (DUOX2, TSHR, TG, DUOXA2, and TPO) in 31 unrelated patients (23%), although the pathogenicity of these variants remains inconclusive. Patients with bi-allelic DUOX2 variants showed a more severe clinical presentation in infancy than those with bi-allelic TSHR variants. However, this trend reversed beyond infancy. There were no statistical differences in initial thyroid stimulating hormone, free thyroxine, thyroglobulin, and levothyroxine dose as of March 2017 between patients with bi-allelic and mono-allelic DUOX2 variants.ConclusionsThe prevalence of potentially-pathogenic variants in Japanese CH patients was similar to that found by previous reports. Our study demonstrates a genotype-phenotype correlation in Japanese CH patients.

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