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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...
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Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders
Clinical exome/genome sequencing is increasingly being utilized by clinicians to diagnose various likely genetic conditions, but many cases remain...
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Novel pathogenic CERKL variant in Iranian familial with inherited retinal dystrophies: genotype–phenotype correlation
Inherited retinal dystrophies (IRDs) include a large chronic heterogeneity genetic disease. While many disease-causing pathogenic variants were...
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Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions
BackgroundAs the availability of genomic testing grows, variant interpretation will increasingly be performed by genomic generalists, rather than...
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Establishment of the Clinical Genome Resource (ClinGen) X-Linked Inherited Retinal Disease Variant Curation Expert Panel
Inherited retinal diseases (IRDs) are a major cause of early onset blindness, profoundly affecting millions of patients. Given the clinical and...
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EPS8 variant causes deafness, autosomal recessive 102 (DFNB102) and literature review
Pathogenic variants in the EPS8 gene result in nonsyndromic hearing loss. This gene encodes the EPS8 protein in cochlear inner hair cells and...
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A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review
Biallelic variants of 4-hydroxyphenylpyruvate dioxygenase-like ( HPDL ) gene have been linked to neurodegenerative disorders ranging from severe...
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Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais
BackgroundPeople with autosomal recessive disorders often were born without awareness of the carrier status of their parents. The American College of...
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Compound Heterozygosity for Late-Onset Cardiomyopathy-Causative ALPK3 Coding Variant and Novel Intronic Variant Cause Infantile Hypertrophic Cardiomyopathy
Hypertrophic and dilated cardiomyopathy (HCM, DCM) are leading causes of cardiovascular morbidity and mortality in children. The pseudokinase...
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A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration
ARSACS (autosomal recessive spastic ataxia of Charlevoix-Saguenay) is a human neurological disorder characterized by progressive cerebellar ataxia...
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Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population
Carrier screening is important to people have a higher prevalence of severe recessive or X-linked genetic conditions. This study is aimed that the...
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Familial co-segregation and the emerging role of long-read sequencing to re-classify variants of uncertain significance in inherited retinal diseases
Phasing genetic variants is essential in determining those that are potentially disease-causing. In autosomal recessive inherited retinal diseases...
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Navigating the penetrance and phenotypic spectrum of inherited cardiomyopathies
Inherited cardiomyopathies are genetic diseases that can lead to heart failure and sudden cardiac death. These conditions tend to run in families,...
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The inherited cerebellar ataxias: an update
This narrative review aims at providing an update on the management of inherited cerebellar ataxias (ICAs), describing main clinical entities,...
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Concurrent of compound heterozygous variant of a novel in-frame deletion and the common hypomorphic haplotype in TBX6 and inherited 17q12 microdeletion in a fetus
BackgroundTBX6 , a member of the T-box gene family, encodes the transcription factor box 6 that is critical for somite segmentation in vertebrates....
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Autosomal recessive cutis laxa type 1C with a homozygous LTBP4 splicing variant: a case report and update of literature
BackgroundAutosomal recessive cutis laxa (ARCL) is a heterogeneous disorder with three primary forms (ARCL 1, ARCL 2 and ARCL 3). Latent transforming...
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Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern
RRM2B encodes the p53-inducible small subunit (p53R2) of ribonucleotide reductase, a key protein for mitochondrial DNA (mtDNA) synthesis. Pathogenic...
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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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Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
BackgroundLong-read whole genome sequencing (lrWGS) has the potential to address the technical limitations of exome sequencing in ways not possible...
