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671 articles
August 20267
Approach to The Patient With Combined Pituitary Hormone Deficiency Due to a Novel Homozygous LHX3 Variant.
A 4.8-year-old boy was evaluated for short stature and central hypothyroidism. Testing showed combined growth hormone, thyrotropin, and prolactin deficiencies, with intact ACTH secretion.
Expanding the Neurological Phenotype of ZTTK Syndrome: A Case of Recurrent Acute Confusional Migraine.
A child with Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome, a multisystem disorder associated with pathogenic SON variants, experienced recurrent episodes of acute confusional migraine (ACM).
An Adult Presentation of KIF11-Related MCLID Syndrome: Case Report and 40-Year Follow-Up.
A 42-year-old woman with severe intellectual disability had microcephaly, hypotonia, seizures, self-injurious behavior, developmental delays, ophthalmologic findings, and impaired speech and adaptive functioning.
A novel PKHD1 missense variant disrupting splicing in a fetus with Caroli disease.
Caroli disease (CD) is a rare inherited disorder characterized by dilatation of intrahepatic bile ducts, and prenatal diagnosis of this disease is extremely rare.
Primary Cutaneous Anaplastic Large Cell Lymphoma in a Patient With Li Fraumeni Syndrome.
A 64-year-old man with Li-Fraumeni syndrome and a germline TP53 p.R196* mutation presented with a solitary ulcerated nodule on the left anterior thigh.
Clinical and genetic analysis of Liver-Predominant ornithine transcarbamylase deficiency caused by a novel de novo OTC sequence variant in a female child.
Ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder. Although the classical presentation is dominated by hyperammonemia-related neurological manifestations, some patients may present with…
Molecular autopsy in unexplained sudden death: a systematic review and meta-analysis of ACMG-corrected diagnostic yield, genomic architecture, and family translation.
This PRISMA-based systematic review and random-effects meta-analysis assessed postmortem genetic testing in unexplained sudden death.
July 202617
Pyle disease - Functional validation of disease-causing missense variants in SFRP4/sFRP4.
An adult woman presented with clinical and radiographic features of Pyle disease, including Erlenmeyer-flask deformity, cortical thinning, and multiple fractures.
Complete Pachydermoperiostosis With Acromegaloid Phenotype: Characteristic 99m Tc-Methylene Diphosphonate (MDP) Skeletal Scintigraphy in a Rare Clinical Mimic of Acromegaly.
Pachydermoperiostosis (Touraine-Solente-Gole syndrome) is a rare disorder that can mimic acromegaly and should be considered a differential in patients with acromegaloid features.
Recurrent KCNN4 p.Ser314Pro variant in a child with Gardos channelopathy: a 6-year follow-up.
A child with Gardos channelopathy due to a recurrent KCNN4 p.Ser314Pro variant was followed for 6 years. The patient maintained a stable baseline but experienced hemolytic crises triggered by infections and exacerbated…
Autosomal recessive desminopathy: an under-recognised disorder.
Myofibrillar myopathies (MFMs) are genetically and clinically heterogeneous muscle disorders characterised by sarcoplasmic protein aggregation and myofibrillar disorganisation arising at the Z-disc.
Early-onset juvenile Paget disease associated with a homozygous intronic TNFRSF11B variant: a 2-year follow-up.
A 2-month-old infant presented with severe irritability and pain on gentle movement, femoral swelling, and persistent hyperphosphatasemia.
Genetic evidence for a causal relationship between melatonin metabolism and depression.
This systematic review utilized two-sample Mendelian randomization to explore the causal relationship between melatonin metabolism and specific depression symptom subtypes in major depressive disorder (MDD).
Clinical Reasoning: A Toddler With Heat Stroke.
A 17-month-old boy presented with febrile seizures and encephalopathy after being exposed to hot weather in a poorly ventilated car.
Genetic susceptibility to thrombotic microangiopathy in a 10-month-old patient with SMA type 1: a caveat for gene therapy eligibility.
A 10-month-old girl with spinal muscular atrophy type 1 was initially deemed eligible for gene therapy with onasemnogene abeparvovec.
Contrasting outcomes of 16p11.2 microdeletion and microduplication in prenatal diagnosis: phenotypic variability and genetic counseling strategies.
This report discusses two prenatal cases involving 16p11.2 copy number variations. Case 1 presented with a de novo microdeletion and an ultrasound finding of an absent nasal bone, leading to pregnancy termination after…
Electroclinical features of epilepsy in AUTS2-related syndrome: case description and narrative review.
A patient with AUTS2-related syndrome presented with epilepsy characterized by developmental/epileptic encephalopathy and spike-wave activation during sleep.
Sustained Therapeutic Efficacy of Intravenous Plasminogen Concentrate in Pediatric Patients With Type 1 Plasminogen Deficiency: An Analysis of Dosing Parameters and Clinical Outcomes.
This Phase II/III clinical trial analyzed the efficacy of intravenous plasminogen concentrate in 17 pediatric patients with Type 1 plasminogen deficiency (PLGD-1).
Brain Abscess as the Initial Manifestation of Hereditary Hemorrhagic Telangiectasia in a Child.
Brain abscess secondary to pulmonary arteriovenous malformation is rare in children and may be the first manifestation of hereditary hemorrhagic telangiectasia (HHT).
PALM3 and hearing loss: a potential dual diagnosis interfering with novel gene discovery.
Hereditary hearing loss is highly genetically heterogeneous, with emerging overlap between genes implicated in early-onset and age-related hearing loss.
Seventeen-year follow-up of hypophosphatasia diagnosed in middle-aged siblings harboring a novel intronic and a rare missense ALPL gene mutation.
A 17-year follow-up of middle-aged siblings diagnosed with hypophosphatasia revealed painful proximal femoral stress fractures, generalized muscle and bone pain, and tooth loss.
Clinical and population genetic insights into primary complement component 2 (C2) deficiency: A founder variant in Ashkenazi Jews.
A 14-year-old Ashkenazi Jewish boy presented with bullous cutaneous lupus erythematosus and lupus nephritis. His diagnosis of complement component 2 deficiency (C2D) was influenced by a family history of fatal…
Tofersen treatment in respiratory onset amyotrophic lateral sclerosis and a variant of uncertain significance in SOD1; a case report.
A patient with respiratory onset amyotrophic lateral sclerosis (ALS) and a novel SOD1 variant of uncertain significance (VUS) was treated with tofersen.
A systematic review of genetic associations, autoantibody profiles, and research gaps of peptidyl arginine deiminases type 2 (PAD2) and PAD4 in rheumatoid arthritis.
This systematic review with narrative synthesis examined genetic associations involving PADI2 and PADI4 and anti-PAD2/anti-PAD4 autoantibodies in rheumatoid arthritis (RA).
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