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Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias
Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and weakness...
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Loss of function of ADNP by an intragenic inversion
ADNP is a well-known gene implicated in intellectual disability and its molecular spectrum consists mainly in loss of function variant in the ADNP ...
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Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1
Neurofibromatosis type 1 (NF1), an autosomal dominant disorder characterized by skin pigmentary lesions and multiple cutaneous neurofibromas, is...
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A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele
RAI1 is a dosage-sensitive gene whose decreased or increased expression by recurrent and non-recurrent 17p11.2 deletions or duplications causes...
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A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome
BackgroundThis study was to report a novel CREBBP mutation and phenotype in a child with Rubinstein–Taybi syndrome.
MethodsCase report of a...
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Evaluation of global and intragenic hypomethylation in colorectal adenomas improves patient stratification and colorectal cancer risk prediction
BackgroundAberrant DNA hypomethylation of the long interspersed nuclear elements (LINE-1 or L1) has been recognized as an early event of colorectal...
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Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel–Van der Aa syndrome
Mutations in ADNP result in Helsmoortel–Van der Aa syndrome. Here, we describe the first de novo intronic deletion, affecting the splice-acceptor...
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New Missense Mutation Gly238Ala in the TBX5 Gene and Its Phenotypical Characteristics
AbstractThe TBX5 gene encodes the T-box transcription factor 5 (Tbx5) involved in the regulation of developmental processes in both vertebrates and...
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Analysis of In Vivo Mutation in the Hprt and Tk Genes of Mouse Lymphocytes
Determining mutant frequencies in endogenous reporter genes is a tool for identifying potentially genotoxic environmental agents, and discovering...
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Human Genetics of Cardiac Arrhythmias
Inherited forms of cardiac arrhythmias mostly are rare diseases (prevalence <1:2000) and considered to be either “primary electrical heart disorders”...
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Identification of MET fusions as novel therapeutic targets sensitive to MET inhibitors in lung cancer
IntroductionAlterations in the MET gene, including amplifications and exon 14 skip** mutations, have been identified as actionable oncogenic...
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Mutations in GAA Gene in Tunisian Families with Infantile Onset Pompe Disease: Novel Mutation and Structural Modeling Investigations
Pompe disease, a rare, autosomal, recessive, inherited, lysosomal storage disorder, is caused by mutations in the acid α-glucosidase ( GAA ) gene...
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Comprehensive Mutation Analysis and Report of 12 Novel Mutations in a Cohort of Patients with Spinal Muscular Atrophy in Iran
Spinal muscular atrophies (SMAs) are a heterogeneous group of neuromuscular diseases characterized by loss of motor neurons, muscle weakness,...
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Spurious transcription causing innate immune responses is prevented by 5-hydroxymethylcytosine
Generation of functional transcripts requires transcriptional initiation at regular start sites, avoiding production of aberrant and potentially...
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Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease
BackgroundRare diseases are pathologies that affect less than 1 in 2000 people. They are difficult to diagnose due to their low frequency and their...
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Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia
BackgroundThe BRCA1 c.3331_3334delCAAG founder mutation has been reported in hereditary breast and ovarian cancer families from multiple Hispanic...
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The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
Haploinsufficiency of TRIP12 causes a neurodevelopmental disorder characterized by intellectual disability associated with epilepsy, autism spectrum...
