Radhika Dhamija
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View article: Comorbid autosomal dominant LDLR- and collagen VI-related disorders.
Comorbid autosomal dominant LDLR- and collagen VI-related disorders. Open
Here, we present the clinical findings from a 65-year-old man with comorbid Bethlem myopathy and familial hypercholesterolemia to highlight some important molecular diagnostic considerations and clinical management implications.
View article: Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of <i>LMNB1</i> -Related Autosomal Dominant Leukodystrophy
Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of <i>LMNB1</i> -Related Autosomal Dominant Leukodystrophy Open
Our consensus-based approach allowed us to formulate guideline recommendations in the setting of limited scientific evidence. Our analysis highlights the need for rigorous, collaborative studies on ADLD, including natural history studies, …
View article: Heterozygosity in NPC may be associated with neurologic and systemic phenotypes
Heterozygosity in NPC may be associated with neurologic and systemic phenotypes Open
Background Niemann-Pick disease type C (NPC) is a pan-ethnic, progressive, recessively inherited lysosomal disorder that affects 1:100,000 live births. Emerging biochemical, genetic, and clinical evidence challenges the traditional view th…
View article: Movement Disorder Following Hypoglycemic Encephalopathy in Mitochondrial 3-Hydroxy-3-methylglutaryl-CoA Synthase-2 (mHS) Deficiency
Movement Disorder Following Hypoglycemic Encephalopathy in Mitochondrial 3-Hydroxy-3-methylglutaryl-CoA Synthase-2 (mHS) Deficiency Open
Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase (mHS) deficiency is an ultra-rare inborn error of ketone body synthesis that is caused by biallelic mutations in HMGCS2. The manifestations of mHS deficiency can include h…
View article: Novel RRAGD Variants in Autosomal Dominant Kidney Hypomagnesemia and Therapeutic Perspectives
Novel RRAGD Variants in Autosomal Dominant Kidney Hypomagnesemia and Therapeutic Perspectives Open
To date, 37 patients with ADKH-RRAGD have been identified. Kidney tubulopathy is the most prominent feature within the phenotypic spectrum of ADKH-RRAGD. Molecularly, constitutive activation of noncanonical mTORC1 is present in most RRA…
View article: P232: Diagnostic yield of genome sequencing after non-diagnostic exome sequencing: A retrospective review of 118 cases at a single institution
P232: Diagnostic yield of genome sequencing after non-diagnostic exome sequencing: A retrospective review of 118 cases at a single institution Open
View article: P317: Clinical practice guidelines for the diagnosis, management, and surveillance of people with LMNB1 related autosomal dominant leukodystrophy: A consensus-based approach
P317: Clinical practice guidelines for the diagnosis, management, and surveillance of people with LMNB1 related autosomal dominant leukodystrophy: A consensus-based approach Open
View article: P420: GM3 synthase deficiency: Case report of an atypical presentation
P420: GM3 synthase deficiency: Case report of an atypical presentation Open
View article: P238: Diagnostic yield of ultra-rapid whole genome sequencing in the NICU: A retrospective review of 324 cases at a single institution
P238: Diagnostic yield of ultra-rapid whole genome sequencing in the NICU: A retrospective review of 324 cases at a single institution Open
View article: Lenmeldy (atidarsagene autotemcel) for individuals with early metachromatic leukodystrophy (MLD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)
Lenmeldy (atidarsagene autotemcel) for individuals with early metachromatic leukodystrophy (MLD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG) Open
View article: ReNeu: A Pivotal, Phase IIb Trial of Mirdametinib in Adults and Children With Symptomatic Neurofibromatosis Type 1-Associated Plexiform Neurofibroma
ReNeu: A Pivotal, Phase IIb Trial of Mirdametinib in Adults and Children With Symptomatic Neurofibromatosis Type 1-Associated Plexiform Neurofibroma Open
PURPOSE Pharmacologic therapies for neurofibromatosis type 1-associated plexiform neurofibromas (NF1-PNs) are limited; currently, none are US Food and Drug Administration–approved for adults. METHODS ReNeu is an open-label, multicenter, pi…
View article: The Complexity of Familial Inheritance in Pectus Excavatum: A Ten-Family Exome Sequencing Analysis
The Complexity of Familial Inheritance in Pectus Excavatum: A Ten-Family Exome Sequencing Analysis Open
Background/Objectives: Pectus excavatum (PEx) is considered, at least partially, a familial disorder. A variety of inheritance patterns, associations with genetic syndromes, and pathogenic variants have been reported. However, the etiology…
View article: A retrospective review of LMNB1-related autosomal dominant leukodystrophy
A retrospective review of LMNB1-related autosomal dominant leukodystrophy Open
Introduction LMNB1 -related autosomal dominant leukodystrophy (ADLD) is a slowly progressive neurodegenerative disorder caused by overexpression of LMNB1 . We retrospectively reviewed charts of all ADLD patients seen at Mayo Clinic. Method…
View article: Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases
Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases Open
Background Though next-generation sequencing (NGS) tests like exome sequencing (ES), genome sequencing (GS), and panels derived from exome and genome data (EGBP) are effective for rare diseases, the ideal diagnostic approach is debated. Li…
View article: Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)
Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD) Open
View article: P185: Genome and exome sequencing to define cardiac phenotypes in diagnostic odyssey cases
P185: Genome and exome sequencing to define cardiac phenotypes in diagnostic odyssey cases Open
Patients with undiagnosed rare disease who embark on a diagnostic odyssey, defined as the time between when a symptom or feature of a rare disease is noted to the time when a final diagnosis is made, often undergo whole genome or exome seq…
View article: P055: Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency presenting with involuntary choreiform movements and dystonia
P055: Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency presenting with involuntary choreiform movements and dystonia Open
Mitochondrial 3-Hydroxy-3-methylglutaryl-CoA Synthase (mHS) deficiency is an ultra-rare inborn error of ketone body synthesis that is caused by homozygous and compound heterozygous mutations in HMGCS2. Clinical manifestations of HMGCS2-rel…
View article: Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions
Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions Open
Adult-onset leukodystrophies though individually rare are not uncommon. This group includes several disorders with isolated adult presentations, as well as several childhood leukodystrophies with attenuated phenotypes that present at a lat…
View article: Semiautomated approach focused on new genomic information results in time and effort- efficient reannotation of negative exome data
Semiautomated approach focused on new genomic information results in time and effort- efficient reannotation of negative exome data Open
Introduction: Most rare disease patients (75 − 50%) undergoing genomic sequencing remain unsolved, often due to lack of information about variants identified. Data review over time can leverage novel information regarding disease-causing v…
View article: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD) Open
View article: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD) Open
Background In the United States, rare disease (RD) is defined as a condition that affects fewer than 200,000 individuals. Collectively, RD affects an estimated 30 million Americans. A significant portion of RD has an underlying genetic cau…
View article: Retinal Vasculopathy With Cerebral Leukoencephalopathy and Systemic Manifestations: Critical Role of Retina Specialists
Retinal Vasculopathy With Cerebral Leukoencephalopathy and Systemic Manifestations: Critical Role of Retina Specialists Open
Purpose: To describe a case of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) to enhance early recognition of this often-missed diagnosis. Methods: A case report is presented. Results: A 50-year…
View article: Telegenetics and COVID 19: Through the Pandemic and Beyond
Telegenetics and COVID 19: Through the Pandemic and Beyond Open
Introduction - The COVID 19 pandemic led to restrictions on the conventional ways of healthcare delivery. Telemedicine provided a viable solution that was in line with the social distancing policies imposed to minimize disease transmission…
View article: Telegentics and COVID 19 : Through the Pandemic and Beyond (Preprint)
Telegentics and COVID 19 : Through the Pandemic and Beyond (Preprint) Open
BACKGROUND The COVID 19 pandemic led to restrictions on the conventional ways of healthcare delivery. Telemedicine provided a viable solution that was in line with the social distancing policies imposed to minimize disease transmission. T…
View article: Experiences of telemedicine in genetic practices during the COVID-19 pandemic
Experiences of telemedicine in genetic practices during the COVID-19 pandemic Open
View article: Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings
Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings Open
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by pathogenic variants in the CYP27A1 gene encoding the mitochondrial enzyme sterol 27‐hydroxylase. Patients with CTX can present wit…
View article: Ekbom Syndrome: Ataxia, Myoclonus, and Cervical Lipomas
Ekbom Syndrome: Ataxia, Myoclonus, and Cervical Lipomas Open
A 69-year-old male presented with 15 years duration of progressive unsteadiness of gait, incoordination in upper limbs, and mild cognitive impairment. He required assistance to walk 10 years into the illness. He also had multiple lipomas a…
View article: <i>LZTR1</i>‐related spinal schwannomatosis and 7q11.23 duplication syndrome: A complex phenotype with dual diagnosis
<i>LZTR1</i>‐related spinal schwannomatosis and 7q11.23 duplication syndrome: A complex phenotype with dual diagnosis Open
Background Dual diagnoses in genetics practice are not uncommon and patients with dual diagnosis often present with complex and challenging phenotypes. A combination of meticulous phenotyping and molecular genetic techniques are essential …
View article: Impact of integrated translational research on clinical exome sequencing
Impact of integrated translational research on clinical exome sequencing Open
View article: Cover
Cover Open
The cover image is based on the Original Article Interpretation challenges of novel dual-class missense and splice-impacting variant in POLR3A-related late-onset hereditary spastic ataxia by Joel A. Morales-Rosado et al., https://doi.org/1…