Nigel G. Laing
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View article: Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy
Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy Open
Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of hereditary neuropathies. Despite progress in genetic sequencing, for around a quarter of patients the disease has lacked a genetic explanation. Here, …
View article: YI2 Moyamoya disease in a Pacific and Māori Cohort
YI2 Moyamoya disease in a Pacific and Māori Cohort Open
View article: Revising the reproductive story: psychosocial and reproductive impacts 12 months after reproductive genetic carrier screening
Revising the reproductive story: psychosocial and reproductive impacts 12 months after reproductive genetic carrier screening Open
View article: Missense variants in<i>TUBA4A</i>cause myo-tubulinopathies
Missense variants in<i>TUBA4A</i>cause myo-tubulinopathies Open
Tubulinopathies encompass a wide spectrum of disorders resulting from variants in genes encoding α- and β-tubulins, the key components of microtubules. While previous studies have linked de novo or dominantly inherited TUBA4A missense vari…
View article: Cost-effectiveness of population-based expanded reproductive carrier screening for genetic diseases in Australia: a microsimulation analysis
Cost-effectiveness of population-based expanded reproductive carrier screening for genetic diseases in Australia: a microsimulation analysis Open
View article: Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum Open
Congenital titinopathy has recently emerged as one of the most common congenital muscle disorders. Objective To better understand the presentation and clinical needs of the under‐characterized extreme end of the congenital titinopathy seve…
View article: Nerve ultrasound, neuronopathy and cough predict sensory neuropathy patients with <i>RFC1</i> expansions
Nerve ultrasound, neuronopathy and cough predict sensory neuropathy patients with <i>RFC1</i> expansions Open
The finding of biallelic pathogenic pentanucleotide RFC1 expansions has extended the spectrum of disease in cerebellar ataxia, neuropathy and vestibular areflexia syndrome. It is clear that for many, a sensory neuropathy is an early featur…
View article: Considering severity in the design of reproductive genetic carrier screening programs: screening for severe conditions
Considering severity in the design of reproductive genetic carrier screening programs: screening for severe conditions Open
View article: Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry Open
View article: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry Open
View article: Generation of iPSC lines from three Laing distal myopathy patients with a recurrent MYH7 p.Lys1617del variant
Generation of iPSC lines from three Laing distal myopathy patients with a recurrent MYH7 p.Lys1617del variant Open
Variants in MYH7 cause cardiomyopathies as well as myosin storage myopathy and Laing early-onset distal myopathy (MPD1). MPD1 is characterized by muscle weakness and atrophy usually beginning in the lower legs. Here, we generated iPSC line…
View article: A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus Open
View article: Genome Sequencing for Diagnosing Rare Diseases
Genome Sequencing for Diagnosing Rare Diseases Open
The diagnostic yield of genome sequencing in a large, diverse research cohort and in a small clinical cohort of persons who had previously undergone genetic testing was approximately 8% and included several types of pathogenic variation th…
View article: A deep intronic variant in <scp><i>MME</i></scp> causes autosomal recessive Charcot–Marie–Tooth neuropathy through aberrant splicing
A deep intronic variant in <span><i>MME</i></span> causes autosomal recessive Charcot–Marie–Tooth neuropathy through aberrant splicing Open
Background Loss‐of‐function variants in MME (membrane metalloendopeptidase) are a known cause of recessive Charcot–Marie–Tooth Neuropathy (CMT). A deep intronic variant, MME c.1188+428A>G (NM_000902.5), was identified through whole genome …
View article: A homozygous<i>ATP2A2</i>variant alters sarcoendoplasmic reticulum Ca<sup>2+</sup>-ATPase 2 function in skeletal muscle and causes a novel vacuolar myopathy
A homozygous<i>ATP2A2</i>variant alters sarcoendoplasmic reticulum Ca<sup>2+</sup>-ATPase 2 function in skeletal muscle and causes a novel vacuolar myopathy Open
Background Sarcoendoplasmic reticulum Ca 2+ -ATPase isoform 2 (SERCA2), encoded by ATP2A2 , is a key protein involved in intracellular Ca 2+ homeostasis. The transcript SERCA2a is predominantly expressed in cardiac muscle and in type I myo…
View article: Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards
Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards Open
Inherited peripheral neuropathies (IPNs) encompass a clinically and genetically heterogeneous group of disorders causing length-dependent degeneration of peripheral autonomic, motor and/or sensory nerves. Despite gold-standard diagnostic t…
View article: Biallelic variants in<i>ARHGAP19</i>cause a motor-predominant neuropathy with asymmetry and conduction slowing
Biallelic variants in<i>ARHGAP19</i>cause a motor-predominant neuropathy with asymmetry and conduction slowing Open
Charcot-Marie-Tooth Disease is a clinically and genetically heterogeneous group of hereditary neuropathies, with over 100 causative genes identified to date. Despite progress in genetic sequencing, around a quarter of patients remain unsol…
View article: Pathogenic <i>TNNI1</i> variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease
Pathogenic <i>TNNI1</i> variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease Open
Troponin I (TnI) regulates thin filament activation and muscle contraction. Two isoforms, TnI-fast ( TNNI2 ) and TnI-slow ( TNNI1 ), are predominantly expressed in fast- and slow-twitch myofibers, respectively. TNNI2 variants are a rare ca…
View article: Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease Open
View article: Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene
Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene Open
RYR1 variants are a common cause of congenital myopathies, including multi-minicore disease (MmD) and central core disease (CCD). Here, we generated iPSC lines from two CCD patients with dominant RYR1 missense variants that affect the tran…
View article: Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene
Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene Open
RYR1 variants are the most common genetic cause of congenital myopathies, and typically cause central core disease (CCD) and/or malignant hyperthermia (MH). Here, we generated iPSC lines from two patients with CCD and MH caused by dominant…
View article: Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets Open
Spinal muscular atrophy (SMA) is a genetic disorder that causes progressive degeneration of lower motor neurons and the subsequent loss of muscle function throughout the body. It is the second most common recessive disorder in individuals …
View article: Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease Open
RFC1 disease, caused by biallelic repeat expansion in RFC1, is clinically heterogeneous in terms of age of onset, disease progression and phenotype. We investigated the role of the repeat size in influencing clinical variables in RFC1 dise…
View article: An Update on Reported Variants in the Skeletal Muscle <i>α</i>‐Actin (<i>ACTA1</i>) Gene
An Update on Reported Variants in the Skeletal Muscle <i>α</i>‐Actin (<i>ACTA1</i>) Gene Open
The ACTA1 gene encodes skeletal muscle alpha‐actin, which forms the core of the sarcomeric thin filament in adult skeletal muscle. ACTA1 represents one of six highly conserved actin proteins that have all been associated with human disease…
View article: A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy
A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy Open
We describe three patients with asymmetric congenital myopathy without definite nemaline bodies and one patient with severe nemaline myopathy. In all four patients, the phenotype had been caused by pathogenic missense variants in ACTA1 lea…
View article: Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene
Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene Open
Central core disease (CCD) is a congenital disorder that results in hypotonia, delayed motor development, and areas of reduced oxidative activity in the muscle fibre. Two induced pluripotent stem cell (iPSC) lines were generated from the l…
View article: Biallelic variants in<i>HMGCS1</i>are a novel cause of rare rigid spine syndrome
Biallelic variants in<i>HMGCS1</i>are a novel cause of rare rigid spine syndrome Open
Rigid spine syndrome is a rare childhood-onset myopathy characterised by slowly progressive or non-progressive scoliosis, neck and spine contractures, hypotonia, and respiratory insufficiency. Biallelic variants in SELENON account for most…
View article: A CCG expansion in<i>ABCD3</i>causes oculopharyngodistal myopathy in individuals of European ancestry
A CCG expansion in<i>ABCD3</i>causes oculopharyngodistal myopathy in individuals of European ancestry Open
Individuals affected by inherited neuromuscular diseases often present with a specific pattern of muscle weakness, which can guide clinicians in genetic investigations and variant interpretation. Nonetheless, more than 50% of cases do not …
View article: Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease Open
Copy number variants (CNVs) are significant contributors to the pathogenicity of rare genetic diseases and with new innovative methods can now reliably be identified from exome sequencing. Challenges still remain in accurate classification…
View article: Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis Open
Background Causal variants underlying rare disorders may remain elusive even after expansive gene panels or exome sequencing (ES). Clinicians and researchers may then turn to genome sequencing (GS), though the added value of this technique…