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Application of a Multiplex Ligation-Dependent Probe Amplification-Based Next-Generation Sequencing Approach for the Detection of Pathogenesis of Duchenne Muscular Dystrophy and Spinal Muscular Atrophy Caused by Copy Number Aberrations
Both Duchenne muscular dystrophy (DMD; OMIM no. 310200) and spinal muscular atrophy (SMA; OMIM no. 253300/253550/253400/271150) are genetic disorders...
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Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplification
BackgroundMutations in fibrillin-1 ( FBN1 ) are known to be associated with Marfan syndrome (MFS), an autosomal dominant connective tissue disorder....
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Structural and numerical Y chromosomal variations in elderly men identified through multiplex ligation-dependent probe amplification
Human Y chromosomes frequently acquire structural and numerical alterations. Known alterations include germline copy-number variations (CNVs) in the...
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Usefulness of methylation-specific multiplex ligation-dependent probe amplification for identification of parental origin of triploidy
Triploidy is a genetic aberration resulting from an extra haploid set of chromosomes of paternal (diandric) or maternal (digynic) origin. Diandric...
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Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA
Pathogenic variants in the OPN1LW/OPN1MW gene cluster are causal for a range of mild to severe visual impairments with color deficiencies. The widely...
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Confined placental mosaicism is a diagnostic pitfall in dystrophinopathies: a clinical report
Single-gene copy number variants (CNVs) limited to placenta although rarely identified may have clinical implications. We describe a pregnant woman...
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Cytogenetics investigation in 151 Brazilian infertile male patients and genomic analysis in selected cases: experience of 14 years in a public genetic service
ObjectivesMale infertility accounts for approximately 30% of cases of reproductive failure. The characterization of genetic variants using...
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Somatic STK11 mosaicism in a Turkish patient with Peutz-Jeghers syndrome
Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder, caused by germline variants in the serine/threonine kinase 11 ( STK11 ) gene. However,...
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Breakpoints characterisation of the genomic deletions identified by MLPA in alkaptonuria patients
Until recently, mainly DNA sequencing has been used to identify variants within the gene coding for homogentisate dioxygenase (HGD, 3q13.33) that...
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A DNA copy number alteration classifier as a prognostic tool for prostate cancer patients
BackgroundDistinguishing between true indolent and potentially life-threatening prostate cancer is challenging in tumours displaying...
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A multicenter study of genetic testing for Parkinson’s disease in the clinical setting
Parkinson’s disease (PD) guidelines lack clear criteria for genetic evaluation. We assessed the yield and rationale of genetic testing for PD in a...
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Genetic Analysis of Forty MLPA-Negative Duchenne Muscular Dystrophy Patients by Whole-Exome Sequencing
This manuscript aimed to determine the underlying point mutations causing Duchenne muscular dystrophy (DMD) in a heterogeneous group of Iranian...
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Screening of Spinal Muscular Atrophy Carriers and Prenatal Diagnosis in Pregnant Women in Yancheng, China
Spinal muscular atrophy (SMA) is a neuromuscular disorder with an autosomal recessive inheritance pattern. Patients with severe symptoms may suffer...
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Glioma 2021 WHO Classification: The Superiority of NGS Over IHC in Routine Diagnostics
IntroductionThe accurate detection of genetic variants such as single substitutions ( IDH1/2 , TERT ), chromosomal abnormalities ( CDKN2A , 1p/19q...
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Screening copy number variations in 35 unsolved inherited retinal disease families
The purpose of this study was to screen Copy Number Variations (CNVs) in 35 unsolved Inherited Retinal Dystrophy (IRD) families. Initially, next...
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NGS-based targeted sequencing identified six novel variants in patients with Duchenne/Becker muscular dystrophy from southwestern China
BackgroundAt present, Multiplex ligation-dependent probe amplification (MLPA) and exome sequencing are common gene detection methods in patients with...
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Multiplex Ligation-Dependent Probe Amplification (MLPA) for Prenatal Diagnosis of Common Aneuploidies
Multiplex Ligation-dependent Probe Amplification (MLPA) is a method to determine the copy number of up to 60 genomic DNA sequences in a single...
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Frequency and distribution of BRCA1/BRCA2 large genomic rearrangements in Turkish population with breast cancer
Germline mutations in BRCA1 and BRCA2 genes are mainly responsible for breast and/or ovarian cancer patients. Most of the mutations in these genes...
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A female patient carrying a novel DMD mutation with non-random X-chromosome inactivation from a DMD family
ObjectiveTo analyze the clinical phenotype and genetic characteristics of a female proband carrying a novel mutation in the DMD gene with non-random...
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Frequent Genetic Variants of Autosomal Recessive Nonsyndromic Forms of Inherited Retinal Diseases in the Russian Federation
AbstractInherited retinal diseases (IRDs) are a clinically heterogeneous group of retinal pathologies associated with vision loss due to dysfunction...
