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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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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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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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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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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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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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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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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...
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Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies
BackgroundPeripheral neuropathies in mitochondrial disease are caused by mutations in nuclear genes encoding mitochondrial proteins, or in the...
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Current gaps in knowledge in inherited arrhythmia syndromes
The 3 most common inherited arrhythmia syndromes—Brugada syndrome, congenital long QT syndrome and catecholaminergic polymorphic ventricular...
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Novel TRPV6 variant linked with transient neonatal hyperparathyroidism
BackgroundHereditary transient neonatal hyperparathyroidism (TNHP) is a rare autosomal-recessive condition caused by variants in TRPV6 gene which...
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Inherited Fanconi syndrome
BackgroundFanconi-Debré-de Toni syndrome (also known as Fanconi renotubular syndrome, or FRST) profoundly increased the understanding of the...
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Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study
BackgroundInherited tubulopathies are a heterogeneous group of genetic disorders making whole-exome sequencing (WES) the preferred diagnostic...
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Identification of a novel mutation in the factor XIII A subunit in a patient with inherited factor XIII deficiency
Inherited factor XIII (FXIII) deficiency is an extremely rare and under-diagnosed autosomal recessive inherited coagulopathy, which is caused by...
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Whole genome sequencing for inherited retinal diseases in the Korean National Project of Bio Big Data
PurposeThis study aimed to analyze the genetic results of inherited retinal diseases (IRDs) and evaluate the diagnostic usefulness of whole genome...
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Inherited retinal disorders: a genotype–phenotype correlation in an Indian cohort and the importance of genetic testing and genetic counselling
PurposeRecent advances in sequencing technologies have enabled radical and rapid progress in the genetic diagnosis of inherited retinal disorders...
