scholarly journals Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene

2018 ◽  
Vol 6 (12) ◽  
pp. 2451-2456 ◽  
Author(s):  
Marika Comegna ◽  
Felice Amato ◽  
Renato Liguori ◽  
Roberto Berni Canani ◽  
Maria Immacolata Spagnuolo ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Microvillous Inclusion Disease

scholarly journals NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders

Diagnostics ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 262
Author(s):  
Maria Valeria Esposito ◽  
Marika Comegna ◽  
Gustavo Cernera ◽  
Monica Gelzo ◽  
Lorella Paparo ◽  
...  
Keyword(s):  
Clinical Picture ◽  
Autosomal Recessive ◽  
Disease Gene ◽  
Rapid Diagnosis ◽  
Novel Mutations ◽  
Bioinformatic Tools ◽  
Congenital Chloride Diarrhea ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing ◽  
Microvillous Inclusion Disease

Congenital diarrheal disorders (CDDs) are early-onset enteropathies generally inherited as autosomal recessive traits. Most patients with CDDs require rapid diagnosis as they need immediate and specific therapy to avoid a poor prognosis, but their clinical picture is often overlapping with a myriad of nongenetic diarrheal diseases. We developed a next-generation sequencing (NGS) panel for the analysis of 92 CDD-related genes, by which we analyzed patients suspect for CDD, among which were (i) three patients with sucrose-isomaltase deficiency; (ii) four patients with microvillous inclusion disease; (iii) five patients with congenital tufting enteropathy; (iv) eight patients with glucose-galactose malabsorption; (v) five patients with congenital chloride diarrhea. In all cases, we identified the mutations in the disease-gene, among which were several novel mutations for which we defined pathogenicity using a combination of bioinformatic tools. Although CDDs are rare, all together, they have an incidence of about 1%. Considering that the clinical picture of these disorders is often confusing, a CDD-related multigene NGS panel contributes to unequivocal and rapid diagnosis, which also reduces the need for invasive procedures.

Two novel mutations of RUNX2 gene in two sporadic cleidocranial dysplasia patients

2016 ◽  
Author(s):  
Cong Zhang ◽  
Yan Jiang ◽  
Xiaoping Xing ◽  
Mei Li ◽  
Ou Wang ◽  
...  
Keyword(s):  
Cleidocranial Dysplasia ◽  
Novel Mutations

Novel Mutations in the EPO-R, VHL Genes and a Reported Mutation in EPAS1 Gene in the Congenital Erythrocytosis Patients in a Southern State of India

2019 ◽  
Author(s):  
Chodimella Chandrasekhar ◽  
Pasupuleti Santhosh Kumar ◽  
Potukuchi Venkata Gurunadha Krishna Sarma
Keyword(s):  
Novel Mutations ◽  
Southern State ◽  
I Gene

scholarly journals Correction to: Neonatal Diabetes Mellitus: Novel Mutations

2021 ◽  
Author(s):  
Sapna Nayak ◽  
Aditya Narayan Sarangi ◽  
Saroj Kumar Sahoo ◽  
Pragya Mangla ◽  
Manoranjan Tripathy ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Novel Mutations

scholarly journals Novel mutations in the gene encoding ATP-binding cassette 1 in four Tangier disease kindreds

2000 ◽  
Vol 41 (3) ◽  
pp. 433-441
Author(s):  
Margaret E. Brousseau ◽  
Ernst J. Schaefer ◽  
Josee Dupuis ◽  
Brenda Eustace ◽  
Paul Van Eerdewegh ◽  
...  
Keyword(s):  
Atp Binding ◽  
Tangier Disease ◽  
Novel Mutations ◽  
Gene Encoding ◽  
Atp Binding Cassette

scholarly journals The molecular make up of smoldering myeloma highlights the evolutionary pathways leading to multiple myeloma

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Eileen M. Boyle ◽  
Shayu Deshpande ◽  
Ruslana Tytarenko ◽  
Cody Ashby ◽  
Yan Wang ◽  
...  
Keyword(s):  
Tumour Suppressor Genes ◽  
Multiple Time ◽  
Clonal Structure ◽  
Time To Progression ◽  
Novel Mutations ◽  
Evolutionary Patterns ◽  
Risk Of Progression ◽  
Multiple Time Points ◽  
Smoldering Myeloma ◽  
Copy Number Changes

AbstractSmoldering myeloma (SMM) is associated with a high-risk of progression to myeloma (MM). We report the results of a study of 82 patients with both targeted sequencing that included a capture of the immunoglobulin and MYC regions. By comparing these results to newly diagnosed myeloma (MM) we show fewer NRAS and FAM46C mutations together with fewer adverse translocations, del(1p), del(14q), del(16q), and del(17p) in SMM consistent with their role as drivers of the transition to MM. KRAS mutations are associated with a shorter time to progression (HR 3.5 (1.5–8.1), p = 0.001). In an analysis of change in clonal structure over time we studied 53 samples from nine patients at multiple time points. Branching evolutionary patterns, novel mutations, biallelic hits in crucial tumour suppressor genes, and segmental copy number changes are key mechanisms underlying the transition to MM, which can precede progression and be used to guide early intervention strategies.

scholarly journals Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Jong Seop Kim ◽  
Hyoungseok Jeon ◽  
Hyeran Lee ◽  
Jung Min Ko ◽  
Yonghwan Kim ◽  
...  
Keyword(s):  
Hip Dysplasia ◽  
Large Deletion ◽  
Compound Heterozygous ◽  
Radial Head Dislocation ◽  
Sequencing Data ◽  
Novel Mutations ◽  
Exome Sequencing Data ◽  
Whole Exome ◽  
Whole Exome Sequencing Data ◽  
Carpal Coalition

AbstractAn 11-year-old Korean boy presented with short stature, hip dysplasia, radial head dislocation, carpal coalition, genu valgum, and fixed patellar dislocation and was clinically diagnosed with Steel syndrome. Scrutinizing the trio whole-exome sequencing data revealed novel compound heterozygous mutations of COL27A1 (c.[4229_4233dup]; [3718_5436del], p.[Gly1412Argfs*157];[Gly1240_Lys1812del]) in the proband, which were inherited from heterozygous parents. The maternal mutation was a large deletion encompassing exons 38–60, which was challenging to detect.

scholarly journals Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia

2000 ◽  
Vol 41 (8) ◽  
pp. 1199-1204 ◽  
Author(s):  
Ken Ohashi ◽  
Shun Ishibashi ◽  
Jun-ichi Osuga ◽  
Ryu-ichi Tozawa ◽  
Kenji Harada ◽  
...  
Keyword(s):  
Protein Gene ◽  
Microsomal Triglyceride Transfer Protein ◽  
Novel Mutations ◽  
Transfer Protein
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