Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis [PDF]
Molecular Genetics & Genomic Medicine, 2020 Background Over half of children with rare genetic diseases remain undiagnosed despite maximal clinical evaluation and DNA‐based genetic testing. As part of an Undiagnosed Diseases Program applying transcriptome (RNA) sequencing to identify the causes of
Odelia Chorin +6 more
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Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients [PDF]
Scientific Reports, 2023 Over 15% of probands in a large cohort of more than 1500 inherited retinal degeneration patients present with a clinical diagnosis of Stargardt disease (STGD1), a recessive form of macular dystrophy caused by biallelic variants in the ABCA4 gene ...
Laura Whelan +16 more
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European Journal of Medical GeneticsGenetic variants in ATP7A are associated with a spectrum of X-linked disorders. In descending order of severity, these are Menkes disease, occipital horn syndrome, and X-linked distal spinal muscular atrophy.
Raymond O'Keefe +2 more
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PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing [PDF]
BMC Genomics, 2023 Background Deep-intronic variants that alter RNA splicing were ineffectively evaluated in the search for the cause of genetic diseases. Determination of such pathogenic variants from a vast number of deep-intronic variants (approximately 1,500,000 ...
Ryo Kurosawa +6 more
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A novel deep intronic variant strongly associates with Alkaptonuria [PDF]
npj Genomic Medicine, 2021 Alkaptonuria is a rare autosomal recessive inherited disorder of tyrosine metabolism, which causes ochronosis, arthropathy, cardiac valvular calcification, and urolithiasis. The epidemiology of alkaptonuria in East Asia is not clear.
Chien-Yi Lai +8 more
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Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia–Telangiectasia [PDF]
Frontiers in Genetics, 2022 Ataxia–telangiectasia (AT) is a complex neurodegenerative disease with an increased risk for bone marrow failure and malignancy. AT is caused by biallelic loss of function variants in ATM, which encodes a phosphatidylinositol 3-kinase that responds to ...
Tatiana Maroilley +17 more
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Molecular Therapy: Nucleic Acids, 2022 Stargardt disease is an autosomal recessively inherited retinal disorder commonly caused by pathogenic variants in the ABCA4 gene encoding the ATP-binding cassette subfamily A member 4 (ABCA4) protein.
Pietro De Angeli +6 more
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Stepwise genetic testing strategy identified pathogenic variants in 10 Chinese duchenne muscular dystrophy patients [PDF]
Frontiers in GeneticsBackgroundDuchenne muscular dystrophy (DMD) results from pathogenic variants in the DMD gene. Despite routine screening using Multiplex Ligation-dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES), a subset of cases remains molecularly ...
Dengzhi Zhao +5 more
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A novel deep intronic COL5A1 variant in an Ehlers-Danlos syndrome family: functional characterization by minigene assay [PDF]
Scientific ReportsThis study aimed to identify the genetic cause of Ehlers-Danlos syndrome (EDS) in a Chinese family and to evaluate the functional impact of a deep intronic COL5A1 variant using a minigene assay.
Jie Zhao, Jingjing Feng
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Frontiers in PediatricsDiagnosing Alport syndrome can be particularly challenging when targeted sequencing methods, such as panel-based next-generation sequencing (NGS), fail to identify pathogenic variants, especially deep intronic mutations.
Hoon Seok Kim +5 more
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