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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...
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A novel homozygous TUB mutation associated with autosomal recessive retinitis pigmentosa in a consanguineous Chinese family
BackgroundRetinitis pigmentosa (RP) is the most common type of inherited retinopathy. At least 69 genes for RP have been identified. A significant...
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Novel PIP5K1C variant identified in a Chinese pedigree with lethal congenital contractural syndrome 3
BackgroundBiallelic pathogenic variants in PIP5K1C (MIM #606,102) lead to lethal congenital contractural syndrome 3 (LCCS3, MIM #611,369), a rare...
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Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal disease
Advances in gene sequencing technologies have accelerated the identification of genetic variants, but better tools are needed to understand which are...
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The dominant findings of a recessive man: from Mendel’s kid pea to kidney
The research of Mendel, born two centuries ago, still has many direct implications for our everyday clinical work. He introduced the terms “dominant”...
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Genome Editing and Inherited Cardiac Arrhythmias
Inherited arrhythmic disorders are a group of heterogeneous diseases predisposing to life-threatening arrhythmias and sudden cardiac death. Their...
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Deep structured learning for variant prioritization in Mendelian diseases
Effective computer-aided or automated variant evaluations for monogenic diseases will expedite clinical diagnostic and research efforts of known and...
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A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts
BackgroundThis report presents a clinical case of syndromic rod-cone dystrophy due to a splice site variant in the ARL2BP gene causing situs...
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Association of ABCA4 Gene Variants in Patients with Autosomal Recessive Cone-Rod Dystrophy and Retinitis Pigmentosa Cohorts from South India
AbstractBackground: The purpose of this study is to determine the genetic association and compare the distribution of ABCA4 gene variants in...
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Two rare autosomal recessive neurological disorders identified by combined genetic approaches in a single consanguineous family with multiple offspring
IntroductionNeurodevelopmental disorders (NDDs) refer to a broad range of diseases including developmental delay, intellectual disability, epilepsy,...
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Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss
BackgroundHereditary hearing loss is a highly heterogeneous disorder. This study aimed to identify the genetic cause of a Chinese family with...
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Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico
BackgroundInherited retinal dystrophies are hereditary diseases which have in common the progressive degeneration of photoreceptors. They are a group...
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Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling
Aromatic l-amino acid decarboxylase (AADC) deficiency is an autosomal recessive neurotransmitter disorder caused by pathogenic DOPA decarboxylase ( DDC ...
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Autosomal Recessive Cerebellar Ataxias
The hereditary ataxias represent a mixed group of conditions that can be classified according to their mode of inheritance into autosomal dominant,...
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NTHL1 is a recessive cancer susceptibility gene
In search of novel breast cancer (BC) risk variants, we performed a whole-exome sequencing and variant analysis of 69 Finnish BC patients as well as...
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Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families
Despite large sequencing and data sharing efforts, previously characterized pathogenic variants only account for a fraction of Mendelian disease...
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Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease
Background5’ untranslated regions (5’UTRs) are essential modulators of protein translation. Predicting the impact of 5’UTR variants is challenging...
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Prevalence of common autosomal recessive mutation carriers in women in the Southern Vietnam following the application of expanded carrier screening
The common autosomal recessive (AR) mutation carrier is still unknown in Vietnam. This study aims to identify the most common AR gene mutation...
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Homozygous missense variant F12 (Gly506Asp) associated with severe factor XII deficiency: a case report
BackgroundFactor XII deficiency can be related to either homozygous or compound heterozygous pathogenic variants in the F12 gene. The disease is...
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Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2
BackgroundMyosin heavy chain (MyHC) isoforms define the three major muscle fiber types in human extremity muscles. Slow beta/cardiac MyHC ( MYH7 ) is...
